A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome-Reference-Cited by-同舟云学术

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Published:2012-05 Issue:5 Volume:90 Page:907-914
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rieder Mark J.,Green Glenn E.,Park Sarah S.,Stamper Brendan D.,Gordon Christopher T.,Johnson Jason M.,Cunniff Christopher M.,Smith Joshua D.,Emery Sarah B.,Lyonnet Stanislas,Amiel Jeanne,Holder Muriel,Heggie Andrew A.,Bamshad Michael J.,Nickerson Deborah A.,Cox Timothy C.,Hing Anne V.,Horst Jeremy A.,Cunningham Michael L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Combined bilateral external ear deformity and hypoplastic mandible. Case report;Uuspää;Scand. J. Plast. Reconstr. Surg.,1978

2. New syndrome? Prominent, constricted ears with malformed condyle of the mandible;Jampol;Am. J. Med. Genet.,1998

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

4. Auriculo-condylar syndrome: additional patients;Guion-Almeida;Am. J. Med. Genet.,2002

5. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds;Storm;Am. J. Med. Genet. A.,2005

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