A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2610-2615

  Al Qattan, Mohammad M ^a   Al Abdulkareem, Ibrahim ^b,c   Al Haidan, Yazied ^b   Al Balwi, Mohammed ^b,c  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

Mutation; Polydactyly; Radius; SHH; ZRS

Indexed keywords

GENOMIC DNA; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR TBX5;

ARM MALFORMATION; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FAMILIAL INCIDENCE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; KIDNEY MALFORMATION; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; POINT MUTATION; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIUS; REGULATOR GENE; REGULATORY SEQUENCE; SALL1 GENE; SALL4 GENE; SCHOOL CHILD; SHH LONG RANGE REGULATOR GENE; TBX5 GENE; THUMB MALFORMATION; TOWNES BROCKS SYNDROME; ZONE OF POLARIZING ACTIVITY REGULATORY SEQUENCE;

ENHANCER ELEMENTS, GENETIC; FAMILY; FEMALE; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; MALE; POINT MUTATION; POLYDACTYLY; RADIUS; THUMB;

ERINACEIDAE;

EID: 84866490078     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35584     Document Type: Article

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