Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations-Reference-Cited by-同舟云学术

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

Published:2013-08-02 Issue:9 Volume:161 Page:2339-2346
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kido Yasuhiro¹,Gordon Christopher T.²,Sakazume Satoru¹,Bdira Eya Ben²,Dattani Mehul³,Wilson Louise C.⁴,Lyonnet Stanislas²⁵,Murakami Nobuyuki¹,Cunningham Michael L.⁶,Amiel Jeanne²⁵,Nagai Toshiro¹

Affiliation:

1. Department of Pediatrics; Dokkyo Medical University Koshigaya Hospital; Saitama Japan

2. INSERM U781; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine; Paris France

3. Department of Endocrinology; Great Ormond Street Hospital for Children; London United Kingdom

4. North East Thames Regional Genetics Service; Great Ormond Street Hospital; London United Kingdom

5. Département de Génétique; Hôpital Necker-Enfants Malades; Paris France

6. Department of Pediatrics; University of Washington and Seattle Children's Hospital, Craniofacial Center; Seattle Washington

Funder

Dokkyo Medical University, Investigator-Initiated Research Grant, Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36066/fullpdf

Reference21 articles.

1. Hirschsprung disease, associated syndromes and genetics: A review;Amiel;J Med Genet,2008

2. Regulation of facial morphogenesis by endothelin signaling: insights from mice and fish;Clouthier;Am J Med Genet Part A,2010

3. Mechanisms of apnea;Eckert;Prog Cardiovasc Dis,2009

4. Transmission of the dysgnathia complex from mother to daughter;Erlich;Am J Med Genet,2000

5. Question mark ears and post-auricular tags;Gerkes;Eur J Med Genet,2008

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