A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

Human Mutation

Volumn 33, Issue 7, 2012, Pages 1063-1066

  Laurell, Tobias ^a,b,c   Vandermeer, Julia E ^c   Wenger, Aaron M ^d   Grigelioniene, Giedre ^a,e   Nordenskjöld, Agneta ^a,e   Arner, Marianne ^a,b   Ekblom, Anna Gerber ^a,b   Bejerano, Gill ^d,f   Ahituv, Nadav ^c   Nordgren, Ann ^a,e  

^a KAROLINSKA INSTITUTE   (Sweden)

^b STOCKHOLM SÖDER HOSPITAL   (Sweden)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Stanford University   (United States)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f STANFORD UNIVERSITY   (United States)

Author keywords

Enhancer; Limb; LMBR1; Polydactyly; SHH; ZRS

Indexed keywords

SONIC HEDGEHOG PROTEIN; SONIC HEDGEHOG PROTEIN ZRS LIMB ENHANCER; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CONTROLLED STUDY; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HUMAN; LIMB MALFORMATION; MOUSE; NONHUMAN; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SWEDEN;

HAND DEFORMITIES, CONGENITAL; HUMANS; MEMBRANE PROTEINS; MUTAGENESIS, INSERTIONAL; POLYDACTYLY; THUMB;

ERINACEIDAE;

EID: 84861843069     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22097     Document Type: Article

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