Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype-Reference-Cited by-同舟云学术

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Published:2019-10-25 Issue:1 Volume:182 Page:29-37
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dudoignon Benjamin¹^ORCID,Huber Celine²³,Michot Caroline¹²³,Di Rocco Federico⁴,Girard Muriel⁵,Lyonnet Stanislas¹,Rio Marlène¹,Rabia Smail Hadj⁶^ORCID,Daire Valérie Cormier¹²³,Baujat Geneviève¹²³

Affiliation:

1. AP‐HP, Service de Génétique Clinique Necker‐Enfants malades University Hospital Paris France

2. INSERM, UMR1163 Iimagine Institute Paris France

3. AP‐HP Reference Center for Skeletal Dysplasia Paris France

4. Hopital Femme Mere Enfant Bron France

5. AP‐HP, Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis, INSERM U1151/CNRS UMR 8253 Institut Necker‐Enfants malades (INEM), Assistance Publique Hopitaux de Paris, Necker‐Enfants malades Hospital Paris France

6. AP‐HP, Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163 Descartes–Sorbonne Paris Cité University, Imagine Institute, Necker‐Enfants malades University Hospital Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61364

Reference20 articles.

1. HEREDITARY DEFORMITIES IN MAN

2. Expanding the phenotype of cardiovascular malformations in Adams‐Oliver syndrome;Algaze C.;American Journal of Human Genetics,2013

3. Polymicrogyria associated with scalp and limb defects: Variant of Adams‐Oliver syndrome;Amor D. J.;American Journal of Human Genetics,2000

4. Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

5. Cardiovascular malformations in Adams‐Oliver syndrome;Digilio M. C.;American Journal of Human Genetics,2015

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