Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Identifieur interne : 000067 ( Main/Exploration ); précédent : 000066; suivant : 000068Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Auteurs : Alona Birjiniuk [États-Unis] ; Kevin E. Glinton [États-Unis] ; Natalie Villafranco [États-Unis] ; Suzanne Boyer [États-Unis] ; Jason Laufman [États-Unis] ; Elizabeth Mizerik [États-Unis] ; Daryl Scott [États-Unis] ; Sarah H. Elsea [États-Unis] ; Csaba Galambos [États-Unis] ; Nidhy P. Varghese [États-Unis] ; Fernando Scaglia [États-Unis, Hong Kong]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2020.
Abstract
Pulmonary hypertension (pHTN) is a severe, life-threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling revealed the same diagnosis along with pulmonary findings consistent with a developmental lung disorder. In particular, these postmortem, autopsy findings have not been described previously in humans with this mitochondrial syndrome and suggest a possible developmental basis for the severe pHTN seen in this disease. Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1-associated complications in this population.
DOI: 10.1002/ajmg.a.61491
PubMed: 31970900
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.</title><author><name sortKey="Birjiniuk, Alona" sort="Birjiniuk, Alona" uniqKey="Birjiniuk A" first="Alona" last="Birjiniuk">Alona Birjiniuk</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Glinton, Kevin E" sort="Glinton, Kevin E" uniqKey="Glinton K" first="Kevin E" last="Glinton">Kevin E. Glinton</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Villafranco, Natalie" sort="Villafranco, Natalie" uniqKey="Villafranco N" first="Natalie" last="Villafranco">Natalie Villafranco</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pulmonary Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Boyer, Suzanne" sort="Boyer, Suzanne" uniqKey="Boyer S" first="Suzanne" last="Boyer">Suzanne Boyer</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Laufman, Jason" sort="Laufman, Jason" uniqKey="Laufman J" first="Jason" last="Laufman">Jason Laufman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Mizerik, Elizabeth" sort="Mizerik, Elizabeth" uniqKey="Mizerik E" first="Elizabeth" last="Mizerik">Elizabeth Mizerik</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Scott, Daryl" sort="Scott, Daryl" uniqKey="Scott D" first="Daryl" last="Scott">Daryl Scott</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Elsea, Sarah H" sort="Elsea, Sarah H" uniqKey="Elsea S" first="Sarah H" last="Elsea">Sarah H. Elsea</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Pediatric Heart Lung Center, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Pediatric Heart Lung Center, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora</wicri:cityArea></affiliation></author><author><name sortKey="Varghese, Nidhy P" sort="Varghese, Nidhy P" uniqKey="Varghese N" first="Nidhy P" last="Varghese">Nidhy P. Varghese</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pulmonary Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="1"><nlm:affiliation>BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong.</nlm:affiliation><country xml:lang="fr">Hong Kong</country><wicri:regionArea>BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin</wicri:regionArea><wicri:noRegion>Shatin</wicri:noRegion></affiliation><affiliation wicri:level="2"><nlm:affiliation>Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children's Hospital, Houston</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2020">2020</date><idno type="RBID">pubmed:31970900</idno><idno type="pmid">31970900</idno><idno type="doi">10.1002/ajmg.a.61491</idno><idno type="wicri:Area/Main/Corpus">000159</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000159</idno><idno type="wicri:Area/Main/Curation">000159</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000159</idno><idno type="wicri:Area/Main/Exploration">000159</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.</title><author><name sortKey="Birjiniuk, Alona" sort="Birjiniuk, Alona" uniqKey="Birjiniuk A" first="Alona" last="Birjiniuk">Alona Birjiniuk</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Glinton, Kevin E" sort="Glinton, Kevin E" uniqKey="Glinton K" first="Kevin E" last="Glinton">Kevin E. Glinton</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Villafranco, Natalie" sort="Villafranco, Natalie" uniqKey="Villafranco N" first="Natalie" last="Villafranco">Natalie Villafranco</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pulmonary Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Boyer, Suzanne" sort="Boyer, Suzanne" uniqKey="Boyer S" first="Suzanne" last="Boyer">Suzanne Boyer</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Laufman, Jason" sort="Laufman, Jason" uniqKey="Laufman J" first="Jason" last="Laufman">Jason Laufman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Mizerik, Elizabeth" sort="Mizerik, Elizabeth" uniqKey="Mizerik E" first="Elizabeth" last="Mizerik">Elizabeth Mizerik</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Scott, Daryl" sort="Scott, Daryl" uniqKey="Scott D" first="Daryl" last="Scott">Daryl Scott</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Elsea, Sarah H" sort="Elsea, Sarah H" uniqKey="Elsea S" first="Sarah H" last="Elsea">Sarah H. Elsea</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Pediatric Heart Lung Center, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Colorado</region></placeName><wicri:cityArea>Pediatric Heart Lung Center, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora</wicri:cityArea></affiliation></author><author><name sortKey="Varghese, Nidhy P" sort="Varghese, Nidhy P" uniqKey="Varghese N" first="Nidhy P" last="Varghese">Nidhy P. Varghese</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pulmonary Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation><affiliation wicri:level="1"><nlm:affiliation>BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong.</nlm:affiliation><country xml:lang="fr">Hong Kong</country><wicri:regionArea>BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin</wicri:regionArea><wicri:noRegion>Shatin</wicri:noRegion></affiliation><affiliation wicri:level="2"><nlm:affiliation>Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Texas Children's Hospital, Houston</wicri:cityArea></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pulmonary hypertension (pHTN) is a severe, life-threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling revealed the same diagnosis along with pulmonary findings consistent with a developmental lung disorder. In particular, these postmortem, autopsy findings have not been described previously in humans with this mitochondrial syndrome and suggest a possible developmental basis for the severe pHTN seen in this disease. Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1-associated complications in this population.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">31970900</PMID><DateRevised><Year>2020</Year><Month>09</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>182</Volume><Issue>4</Issue><PubDate><Year>2020</Year><Month>04</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am J Med Genet A</ISOAbbreviation></Journal><ArticleTitle>Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.</ArticleTitle><Pagination><MedlinePgn>755-761</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.61491</ELocationID><Abstract><AbstractText>Pulmonary hypertension (pHTN) is a severe, life-threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling revealed the same diagnosis along with pulmonary findings consistent with a developmental lung disorder. In particular, these postmortem, autopsy findings have not been described previously in humans with this mitochondrial syndrome and suggest a possible developmental basis for the severe pHTN seen in this disease. Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1-associated complications in this population.</AbstractText><CopyrightInformation>© 2020 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Birjiniuk</LastName><ForeName>Alona</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Glinton</LastName><ForeName>Kevin E</ForeName><Initials>KE</Initials><Identifier Source="ORCID">0000-0003-1854-7875</Identifier><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Villafranco</LastName><ForeName>Natalie</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boyer</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laufman</LastName><ForeName>Jason</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mizerik</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>Daryl</ForeName><Initials>D</Initials><Identifier Source="ORCID">0000-0003-1460-5169</Identifier><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Elsea</LastName><ForeName>Sarah H</ForeName><Initials>SH</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Galambos</LastName><ForeName>Csaba</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Heart Lung Center, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Varghese</LastName><ForeName>Nidhy P</ForeName><Initials>NP</Initials><AffiliationInfo><Affiliation>Department of Pulmonary Medicine, Texas Children's Hospital, Houston, Texas.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Section of Pediatric Pulmonology, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scaglia</LastName><ForeName>Fernando</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Texas Children's Hospital, Houston, Texas.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Baylor College of Medicine</Agency><Country>International</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>01</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">abnormal pulmonary development</Keyword><Keyword MajorTopicYN="Y">iron sulfur clusters</Keyword><Keyword MajorTopicYN="Y">ketogenic diet</Keyword><Keyword MajorTopicYN="Y">multiple mitochondrial dysfunctions syndrome 1</Keyword><Keyword MajorTopicYN="Y">pulmonary hypertension</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2019</Year><Month>09</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2019</Year><Month>12</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>01</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>1</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>1</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>1</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">31970900</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.61491</ArticleId></ArticleIdList><ReferenceList><Title>REFERENCES</Title><Reference><Citation>Abman, S. 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Elsea</name><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><name sortKey="Glinton, Kevin E" sort="Glinton, Kevin E" uniqKey="Glinton K" first="Kevin E" last="Glinton">Kevin E. Glinton</name><name sortKey="Laufman, Jason" sort="Laufman, Jason" uniqKey="Laufman J" first="Jason" last="Laufman">Jason Laufman</name><name sortKey="Mizerik, Elizabeth" sort="Mizerik, Elizabeth" uniqKey="Mizerik E" first="Elizabeth" last="Mizerik">Elizabeth Mizerik</name><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><name sortKey="Scott, Daryl" sort="Scott, Daryl" uniqKey="Scott D" first="Daryl" last="Scott">Daryl Scott</name><name sortKey="Varghese, Nidhy P" sort="Varghese, Nidhy P" uniqKey="Varghese N" first="Nidhy P" last="Varghese">Nidhy P. Varghese</name><name sortKey="Varghese, Nidhy P" sort="Varghese, Nidhy P" uniqKey="Varghese N" first="Nidhy P" last="Varghese">Nidhy P. Varghese</name><name sortKey="Villafranco, Natalie" sort="Villafranco, Natalie" uniqKey="Villafranco N" first="Natalie" last="Villafranco">Natalie Villafranco</name><name sortKey="Villafranco, Natalie" sort="Villafranco, Natalie" uniqKey="Villafranco N" first="Natalie" last="Villafranco">Natalie Villafranco</name></country><country name="Hong Kong"><noRegion><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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