Novel HOXA13 mutation and the phenotypic spectrum of hand-foot-genital syndrome

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 197-202

  Goodman, Frances R ^a   Bacchelli, Chiara ^a   Brady, Angela F ^b   Brueton, Louise A ^b   Fryns, Jean Pierre ^c   Mortlock, Douglas P ^d   Innis, Jeffrey W ^e   Holmes, Lewis B ^f   Donnenfeld, Alan E ^g   Feingold, Murray ^h   Beemer, Frits A ⁱ   Hennekam, Raoul C M ^j   Scambler, Peter J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NORTHWICK PARK HOSPITAL   (United Kingdom)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d STANFORD UNIVERSITY   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

^f HARVARD UNIVERSITY   (United States)

^g PENNSYLVANIA HOSPITAL   (United States)

^h National Birth Defects Center   (United States)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO TERMINAL SEQUENCE; ARTICLE; CONGENITAL MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; HAND FOOT GENITAL SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHILD; FEMALE; FOOT MALFORMATION; GENE DELETION; GENETICS; HAND MALFORMATION; HOMEOBOX; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PEDIGREE; RADIOGRAPHY; STOP CODON; SYNDROME; UROGENITAL TRACT MALFORMATION;

HOMEOBOX PROTEIN HOXA13; HOMEODOMAIN PROTEIN;

ABNORMALITIES, MULTIPLE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, HOMEOBOX; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 0033625748     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302961     Document Type: Article

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