Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Nature Genetics

Volumn 38, Issue 5, 2006, Pages 561-565

  Toydemir, Reha M ^a   Rutherford, Ann ^a   Whitby, Frank G ^a   Jorde, Lynn B ^a   Carey, John C ^a   Bamshad, Michael J ^b  

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

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN;

ARTHROGRYPOSIS; ARTICLE; CLINICAL ARTICLE; FREEMAN SHELDON SYNDROME; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MYH3 GENE; PRIORITY JOURNAL; SARCOMERE; SHELDON HALL SYNDROME; STRUCTURE ACTIVITY RELATION;

ABNORMALITIES, MULTIPLE; CATALYSIS; GENOTYPE; HUMANS; MUTATION; MYOSIN HEAVY CHAINS; PHENOTYPE; SYNDROME;

EID: 33646364575     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1775     Document Type: Article

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