Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 ofSRCAP-Reference-Cited by-同舟云学术

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 ofSRCAP

Published:2012-10-16 Issue:1 Volume:34 Page:88-92
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Goff Carine Le¹,Mahaut Clémentine¹,Bottani Armand²,Doray Berenice³,Goldenberg Alice⁴,Moncla Anne⁵,Odent Sylvie⁶,Nitschke Patrick⁷,Munnich Arnold¹,Faivre Laurence⁸,Cormier-Daire Valérie¹

Affiliation:

1. Department of Genetics; INSERM U781; Université Paris Descartes-Sorbonne Paris Cité; Institut Imagine, Hôpital Necker; Paris; France

2. Service de Médecine Génétique; Département de Médecine Génétique et de Laboratoire; Hôpitaux Universitaires de Genéve; Geneve; Switzerland

3. Service de Génétique Médicale; Hôpitaux universitaires de Strasbourg; Strasbourg; France

4. Département de Génétique Médicale; Centre Hospitalier Universiaire de Rouen; Rouen; France

5. Departement de Génétique Médicale de Marseille Hôpital Timone-enfants; Marseille; France

6. Service de Génétique Clinique; Hôpital Sud; UMR 6290 CNRS University Rennes 1; Rennes; France

7. Plateforme de Bioinformatique; Université Paris Descartes; Paris; France

8. Centre de Génétique et Centre de Référence Anomalies; du Développement et Syndromes Malformatifs; CHU Dijon et Université de; Bourgogne; Dijon; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22216/fullpdf

Reference12 articles.

1. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma;Byun;J Exp Med,2010

2. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome;Hood;Am J Hum Genet,2012

3. Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance;Lacombe;Eur J Pediatr,1995

4. The Floating-Harbor syndrome;Leisti;Birth Defects Orig Artic Ser,1975

5. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The missing link between genetic association and regulatory function;eLife;2022-12-14

2. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene;European Journal of Human Genetics;2022-06-30

3. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review;Frontiers in Genetics;2022-05-18

4. Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review;Frontiers in Pediatrics;2021-11-05

5. The missing link between genetic association and regulatory function;2021-06-11