Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

Clinical Genetics

Volumn 79, Issue 4, 2011, Pages 371-377

  Albuisson, J ^a   Isidor, B ^a   Giraud, M ^a   Pichon, O ^a   Marsaud, T ^a   David, A ^a   Le Caignec, C ^a,b   Bezieau, S ^a,c  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b L INSTITUT DU THORAX   (France)

^c UNIVERSITÉ DE NANTES   (France)

Author keywords

7q36; Conserved non coding sequence; Pre axial polydactyly; Sonic hedgehog; ZRS

Indexed keywords

SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR SOX9;

ARTICLE; CHROMOSOME 7Q; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NONHUMAN; NUCLEOTIDE BINDING SITE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; POLYDACTYLY; POLYMERASE CHAIN REACTION; PREAXIAL POLYDACTYLY TYPE 2; PRIORITY JOURNAL; REGULATORY SEQUENCE;

ANIMALS; BASE SEQUENCE; BINDING SITES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HEDGEHOG PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POINT MUTATION; POLYDACTYLY; SEQUENCE HOMOLOGY, AMINO ACID; SOX9 TRANSCRIPTION FACTOR;

ERINACEIDAE; GALLUS GALLUS; MUS;

EID: 79952238473     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01465.x     Document Type: Article

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