GAPO Syndrome: A Report of Two Siblings and a Review of Literature
Identifieur interne : 000696 ( Istex/Curation ); précédent : 000695; suivant : 000697GAPO Syndrome: A Report of Two Siblings and a Review of Literature
Auteurs : Arti Nanda ; Wafa A. Al-Ateeqi ; Mona A. Al-Khawari ; Qasem A. Alsaleh ; Jeoram T. Anim [Koweït]Source :
- Pediatric Dermatology [ 0736-8046 ] ; 2010-03.
English descriptors
- KwdEn :
- Acronym gapo, Additional patients, Alopecia, Amorphous material, Atrophy, Bers, Bilateral pallor, Candidate gene, Case report, Choroidal sclerosis, Consanguineous parents, Deeper dermis, Dermis, Early infancy, Electron microscopy, Empty sella, Gapo, Gapo syndrome, Genet, Growth retardation, Homogeneous material, Hyaline material, Magnetic resonance imaging, March april, Molecular defect, Molecular defects, Nasal retina, Ndings, Optic, Optic atrophy, Optic disc, Panoramic radiograph, Papillary, Papillary dermis, Pediatric dermatology, Present report, Primary teeth, Progressive loss, Prominent scalp veins, Pseudoanodontia, Reticular dermis, Several reports, Sibling, Skin biopsies, Skin biopsy, Sudden diminution, Syndrome, White matter.
- Teeft :
- Acronym gapo, Additional patients, Alopecia, Amorphous material, Atrophy, Bers, Bilateral pallor, Candidate gene, Case report, Choroidal sclerosis, Consanguineous parents, Deeper dermis, Dermis, Early infancy, Electron microscopy, Empty sella, Gapo, Gapo syndrome, Genet, Growth retardation, Homogeneous material, Hyaline material, Magnetic resonance imaging, March april, Molecular defect, Molecular defects, Nasal retina, Ndings, Optic, Optic atrophy, Optic disc, Panoramic radiograph, Papillary, Papillary dermis, Pediatric dermatology, Present report, Primary teeth, Progressive loss, Prominent scalp veins, Pseudoanodontia, Reticular dermis, Several reports, Sibling, Skin biopsies, Skin biopsy, Sudden diminution, Syndrome, White matter.
Abstract
Abstract: Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.
Url:
DOI: 10.1111/j.1525-1470.2010.01100.x
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000696
Links to Exploration step
ISTEX:0E5187481369BB11830B64A00F6ECC9829293352Curation
No country items
Arti Nanda<affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation><affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">GAPO Syndrome: A Report of Two Siblings and a Review of Literature</title><author><name sortKey="Nanda, Arti" sort="Nanda, Arti" uniqKey="Nanda A" first="Arti" last="Nanda">Arti Nanda</name><affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Al Teeqi, Wafa A" sort="Al Teeqi, Wafa A" uniqKey="Al Teeqi W" first="Wafa A." last="Al-Ateeqi">Wafa A. Al-Ateeqi</name><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Al Hawari, Mona A" sort="Al Hawari, Mona A" uniqKey="Al Hawari M" first="Mona A." last="Al-Khawari">Mona A. Al-Khawari</name><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Alsaleh, Qasem A" sort="Alsaleh, Qasem A" uniqKey="Alsaleh Q" first="Qasem A." last="Alsaleh">Qasem A. Alsaleh</name><affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Anim, Jeoram T" sort="Anim, Jeoram T" uniqKey="Anim J" first="Jeoram T." last="Anim">Jeoram T. Anim</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait</mods:affiliation><country xml:lang="fr">Koweït</country><wicri:regionArea>Department of Pathology, Faculty of Medicine, Kuwait University</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0E5187481369BB11830B64A00F6ECC9829293352</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1111/j.1525-1470.2010.01100.x</idno><idno type="url">https://api.istex.fr/document/0E5187481369BB11830B64A00F6ECC9829293352/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000696</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000696</idno><idno type="wicri:Area/Istex/Curation">000696</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">GAPO Syndrome: A Report of Two Siblings and a Review of Literature</title><author><name sortKey="Nanda, Arti" sort="Nanda, Arti" uniqKey="Nanda A" first="Arti" last="Nanda">Arti Nanda</name><affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Al Teeqi, Wafa A" sort="Al Teeqi, Wafa A" uniqKey="Al Teeqi W" first="Wafa A." last="Al-Ateeqi">Wafa A. Al-Ateeqi</name><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Al Hawari, Mona A" sort="Al Hawari, Mona A" uniqKey="Al Hawari M" first="Mona A." last="Al-Khawari">Mona A. Al-Khawari</name><affiliation><mods:affiliation>Department of Pediatrics, Al‐Amiri Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Alsaleh, Qasem A" sort="Alsaleh, Qasem A" uniqKey="Alsaleh Q" first="Qasem A." last="Alsaleh">Qasem A. Alsaleh</name><affiliation><mods:affiliation>As’ad Al‐Hamad Dermatology Center, Al‐Sabah Hospital</mods:affiliation><wicri:noCountry code="subField">Hospital</wicri:noCountry></affiliation></author><author><name sortKey="Anim, Jeoram T" sort="Anim, Jeoram T" uniqKey="Anim J" first="Jeoram T." last="Anim">Jeoram T. Anim</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait</mods:affiliation><country xml:lang="fr">Koweït</country><wicri:regionArea>Department of Pathology, Faculty of Medicine, Kuwait University</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pediatric Dermatology</title><title level="j" type="alt">PEDIATRIC DERMATOLOGY</title><idno type="ISSN">0736-8046</idno><idno type="eISSN">1525-1470</idno><imprint><biblScope unit="vol">27</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="156">156</biblScope><biblScope unit="page" to="161">161</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-03">2010-03</date></imprint><idno type="ISSN">0736-8046</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0736-8046</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acronym gapo</term><term>Additional patients</term><term>Alopecia</term><term>Amorphous material</term><term>Atrophy</term><term>Bers</term><term>Bilateral pallor</term><term>Candidate gene</term><term>Case report</term><term>Choroidal sclerosis</term><term>Consanguineous parents</term><term>Deeper dermis</term><term>Dermis</term><term>Early infancy</term><term>Electron microscopy</term><term>Empty sella</term><term>Gapo</term><term>Gapo syndrome</term><term>Genet</term><term>Growth retardation</term><term>Homogeneous material</term><term>Hyaline material</term><term>Magnetic resonance imaging</term><term>March april</term><term>Molecular defect</term><term>Molecular defects</term><term>Nasal retina</term><term>Ndings</term><term>Optic</term><term>Optic atrophy</term><term>Optic disc</term><term>Panoramic radiograph</term><term>Papillary</term><term>Papillary dermis</term><term>Pediatric dermatology</term><term>Present report</term><term>Primary teeth</term><term>Progressive loss</term><term>Prominent scalp veins</term><term>Pseudoanodontia</term><term>Reticular dermis</term><term>Several reports</term><term>Sibling</term><term>Skin biopsies</term><term>Skin biopsy</term><term>Sudden diminution</term><term>Syndrome</term><term>White matter</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Acronym gapo</term><term>Additional patients</term><term>Alopecia</term><term>Amorphous material</term><term>Atrophy</term><term>Bers</term><term>Bilateral pallor</term><term>Candidate gene</term><term>Case report</term><term>Choroidal sclerosis</term><term>Consanguineous parents</term><term>Deeper dermis</term><term>Dermis</term><term>Early infancy</term><term>Electron microscopy</term><term>Empty sella</term><term>Gapo</term><term>Gapo syndrome</term><term>Genet</term><term>Growth retardation</term><term>Homogeneous material</term><term>Hyaline material</term><term>Magnetic resonance imaging</term><term>March april</term><term>Molecular defect</term><term>Molecular defects</term><term>Nasal retina</term><term>Ndings</term><term>Optic</term><term>Optic atrophy</term><term>Optic disc</term><term>Panoramic radiograph</term><term>Papillary</term><term>Papillary dermis</term><term>Pediatric dermatology</term><term>Present report</term><term>Primary teeth</term><term>Progressive loss</term><term>Prominent scalp veins</term><term>Pseudoanodontia</term><term>Reticular dermis</term><term>Several reports</term><term>Sibling</term><term>Skin biopsies</term><term>Skin biopsy</term><term>Sudden diminution</term><term>Syndrome</term><term>White matter</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Abstract: Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000696 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 000696 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:0E5187481369BB11830B64A00F6ECC9829293352
|texte= GAPO Syndrome: A Report of Two Siblings and a Review of Literature
}}
| This area was generated with Dilib version V0.6.32. |  |