Mutations in WNT7A cause a range of limb malformations, including fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

American Journal of Human Genetics

Volumn 79, Issue 2, 2006, Pages 402-408

  Woods, C G ^a   Stricker, S ^b   Seemann, P ^b   Stern, R ^a   Cox, J ^a   Sherridan, E ^c   Roberts, E ^d   Springell, K ^d   Scott, S ^d   Karbani, G ^c   Sharif, S M ^c   Toomes, C ^d   Bond, J ^d   Kumar, D ^e,f   Al Gazali, L ^g   Mundlos, S ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Department of Clinical Genetics ^*  (United Kingdom)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RETROVIRUS VECTOR; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN; WNT7A PROTEIN;

AL AWADI RAAS ROTHSCHILD SCHINZEL PHOCOMELIA SYNDROME; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APLASIA; ARTICLE; CELL CULTURE; CHICKEN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; EMBRYO; FEMALE; FUHRMANN SYNDROME; GENE; GENE MUTATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; JOINT MALFORMATION; KNOCKOUT MOUSE; LIMB AMPUTATION; LIMB DEVELOPMENT; LIMB MALFORMATION; MALE; MESENCHYME CELL; MISSENSE MUTATION; MOLECULAR GENETICS; MORPHOGENESIS; NONHUMAN; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; VERTEBRATE; WNT7A GENE;

VERTEBRATA;

EID: 33746555937     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/506332     Document Type: Article

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