Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Author:

Chong Jessica X.,Burrage Lindsay C.,Beck Anita E.,Marvin Colby T.,McMillin Margaret J.,Shively Kathryn M.,Harrell Tanya M.,Buckingham Kati J.,Bacino Carlos A.,Jain Mahim,Alanay Yasemin,Berry Susan A.,Carey John C.,Gibbs Richard A.,Lee Brendan H.,Krakow Deborah,Shendure Jay,Nickerson Deborah A.,Bamshad Michael J.,Bamshad Michael J.,Shendure Jay,Nickerson Deborah A.,Abecasis Gonçalo R.,Anderson Peter,Blue Elizabeth Marchani,Annable Marcus,Browning Brian L.,Buckingham Kati J.,Chen Christina,Chin Jennifer,Chong Jessica X.,Cooper Gregory M.,Davis Colleen P.,Frazar Christopher,Harrell Tanya M.,He Zongxiao,Jain Preti,Jarvik Gail P.,Jimenez Guillaume,Johanson Eric,Jun Goo,Kircher Martin,Kolar Tom,Krauter Stephanie A.,Krumm Niklas,Leal Suzanne M.,Luksic Daniel,Marvin Colby T.,McMillin Margaret J.,McGee Sean,O’Reilly Patrick,Paeper Bryan,Patterson Karynne,Perez Marcos,Phillips Sam W.,Pijoan Jessica,Poel Christa,Reinier Frederic,Robertson Peggy D.,Santos-Cortez Regie,Shaffer Tristan,Shephard Cindy,Shively Kathryn M.,Siegel Deborah L.,Smith Joshua D.,Staples Jeffrey C.,Tabor Holly K.,Tackett Monica,Underwood Jason G.,Wegener Marc,Wang Gao,Wheeler Marsha M.,Yi Qian

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes;Vogt;J. Med. Genet.,2012

2. Frias, J.L., Holahan, J.R., Rosenbloom, A.L., and Felman, A.H. (1973). An autosomal dominant syndrome of multiple pterygium, ptosis, and skeletal abnormalities. Proceedings of the Fourth International Conference on Birth Defects. Excerpta Medica 19.

3. An unusual distal arthrogryposis;Kawira;Am. J. Med. Genet.,1985

4. An autosomal dominant multiple pterygium syndrome;McKeown;J. Med. Genet.,1988

5. Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?;Prontera;Am. J. Med. Genet. A.,2006

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