New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
Identifieur interne : 00D328 ( Main/Exploration ); précédent : 00D327; suivant : 00D329New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
Auteurs : A. Richieri-Costa [Brésil] ; M. L. Guion-Almeida [Brésil] ; A. L. Ramos [Brésil]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1992-06-01.
Abstract
We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome. © 1992 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320430312
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 006A30
- to stream Istex, to step Curation: 006A30
- to stream Istex, to step Checkpoint: 005086
- to stream Main, to step Merge: 00DE24
- to stream Main, to step Curation: 00D328
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies</title>
<author><name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name>
</author>
<author><name sortKey="Guion Lmeida, M L" sort="Guion Lmeida, M L" uniqKey="Guion Lmeida M" first="M. L." last="Guion-Almeida">M. L. Guion-Almeida</name>
</author>
<author><name sortKey="Ramos, A L" sort="Ramos, A L" uniqKey="Ramos A" first="A. L." last="Ramos">A. L. Ramos</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:E2D08385F7FBB409078456A8C7A3D7290079F417</idno>
<date when="1992" year="1992">1992</date>
<idno type="doi">10.1002/ajmg.1320430312</idno>
<idno type="url">https://api.istex.fr/document/E2D08385F7FBB409078456A8C7A3D7290079F417/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">006A30</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">006A30</idno>
<idno type="wicri:Area/Istex/Curation">006A30</idno>
<idno type="wicri:Area/Istex/Checkpoint">005086</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">005086</idno>
<idno type="wicri:doubleKey">0148-7299:1992:Richieri Osta A:new:syndrome:mental</idno>
<idno type="wicri:Area/Main/Merge">00DE24</idno>
<idno type="wicri:Area/Main/Curation">00D328</idno>
<idno type="wicri:Area/Main/Exploration">00D328</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies</title>
<author><name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name>
<affiliation wicri:level="4"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐Palatais, Universidade de São Paulo, Bauru, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐ Palatais, USP, P.O. Box 620, 17043 Bauru, SP</wicri:regionArea>
<placeName><region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guion Lmeida, M L" sort="Guion Lmeida, M L" uniqKey="Guion Lmeida M" first="M. L." last="Guion-Almeida">M. L. Guion-Almeida</name>
<affiliation wicri:level="4"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐Palatais, Universidade de São Paulo, Bauru, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Ramos, A L" sort="Ramos, A L" uniqKey="Ramos A" first="A. L." last="Ramos">A. L. Ramos</name>
<affiliation wicri:level="4"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐Palatais, Universidade de São Paulo, Bauru, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">43</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="565">565</biblScope>
<biblScope unit="page" to="568">568</biblScope>
<biblScope unit="page-count">4</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1992-06-01">1992-06-01</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome. © 1992 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<affiliations><list><country><li>Brésil</li>
</country>
<region><li>État de São Paulo</li>
</region>
<settlement><li>São Paulo</li>
</settlement>
<orgName><li>Université de São Paulo</li>
</orgName>
</list>
<tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name>
</region>
<name sortKey="Guion Lmeida, M L" sort="Guion Lmeida, M L" uniqKey="Guion Lmeida M" first="M. L." last="Guion-Almeida">M. L. Guion-Almeida</name>
<name sortKey="Ramos, A L" sort="Ramos, A L" uniqKey="Ramos A" first="A. L." last="Ramos">A. L. Ramos</name>
<name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00D328 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00D328 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:E2D08385F7FBB409078456A8C7A3D7290079F417 |texte= New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies }}
This area was generated with Dilib version V0.6.31. |