Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 841-849

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

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d ACIBADEM UNIVERSITY   (Turkey)

^e UNIVERSITY OF MINNESOTA   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 3; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; MYH3 POLYPEPTIDE, HUMAN; MYOSIN;

ALLELIC IMBALANCE; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAMPTODACTYLY; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTRACTURE; CRANIOFACIAL SYNOSTOSIS; DNA FRAGMENTATION; DNA REPAIR; EVOLUTIONARY RATE; EXOME; FAMILY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOMIC INSTABILITY; GENOTYPE; HUMAN; MOLECULAR WEIGHT; MONOCYTE; PHENOTYPE; PRIORITY JOURNAL; PTERYGIUM; SCOLIOSIS; SHORT STATURE; SPINE FUSION; THORACOLUMBAR SPINE; WEBBED NECK; BIOSYNTHESIS; BONE DEVELOPMENT; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOPHYSIOLOGY;

ARTHROGRYPOSIS; CYTOSKELETAL PROTEINS; EXOME; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; MYOSINS; OSTEOGENESIS;

EID: 84929180143     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.004     Document Type: Article

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