Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 [10]

Journal of Medical Genetics

Volumn 39, Issue 11, 2002, Pages 852-856

  Debeer, P ^a   Bacchelli, C ^a   Scambler, P J ^a   De Smet, L ^a   Fryns, J P ^a   Goodman, F R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE;

DISEASE SEVERITY; FEMALE; FINGER MALFORMATION; FRAMESHIFT MUTATION; GENE DELETION; HAND FOOT SYNDROME; HETEROZYGOTE; HOX GENE; HOXA13 GENE; HOXD13 GENE; HUMAN; LETTER; LIMB MALFORMATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL;

DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FINGERS; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION, MISSENSE; PEDIGREE; PEPTIDES; POLYDACTYLY; SYNDACTYLY; TOES; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0036848639     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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