HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

American Journal of Medical Genetics

Volumn 110, Issue 2, 2002, Pages 116-121

  Kjaer, Klaus Wilbrandt ^a,d   Hedeboe, Jess ^b   Bugge, Merete ^a   Hansen, Claus ^a   Friis Henriksen, Karen ^a   Vestergaard, Maria Baeksted ^a   Tommerup, Niels ^a   Opitz, John M ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NAESTVED HOSPITAL   (Denmark)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Genetic variability; HOXD13; Limb malformations; Polyalanine expansion; Synpolydactyly

Indexed keywords

ALANINE;

ARTICLE; BONE MALFORMATION; CLINICAL ARTICLE; DERMATOGLYPHICS; DYSOSTOSIS; GENE MUTATION; GENETIC VARIABILITY; HOX GENE; HOXD13 GENE; HUMAN; PEDIGREE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDACTYLY;

ALANINE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PEPTIDES; POLYDACTYLY; POLYMORPHISM, GENETIC; SYNDACTYLY; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0037097402     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10397     Document Type: Article

References (8)

1. Congenital deformities of the upper extremities
2. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
3. Gel-loading dyes compatible with PCR
4. A simple salting out procedure for extracting DNA from human nucleated cells
5. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
6. Limb anomalies from evolutionary, developmental, and genetic perspectives
7. Einige eigentümlichkeiten der erblichen poly- und syndaktylie bei menschen
8. Polyalanine expansion in synpolydactyly might result fom unequal crossing-over of HOXD13