Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft

Clinical Dysmorphology

Volumn 21, Issue 3, 2012, Pages 141-143

  Low, Karen J ^a   Nwbury Ecob, Ruth A ^a  

^a ST MICHAEL'S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLEFT FACE; CLEFT LIP; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; ECTRODACTYLY; EXON; FEMALE; GENE; GENETIC ANALYSIS; GESTATIONAL AGE; HAND SURGERY; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HOXD13 GENE; HUMAN; INFANT; NEWBORN; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDACTYLY; SYNPOLYDACTYLY;

CLEFT LIP; CODON, NONSENSE; CONSANGUINITY; EXONS; FEMALE; FINGERS; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PEPTIDE CHAIN TERMINATION, TRANSLATIONAL; PHENOTYPE; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; SYNDACTYLY; TRANSCRIPTION FACTORS;

EID: 84862182177     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32835306f0     Document Type: Article

References (3)

1. Goodman FR (2002). Limb malformations and the human HOX genes. Am J Med Genet 112:256-265.
2. Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y (2006). Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Europ J Med Genet 49:396-401.
3. Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM (2011). A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. J Hum Genet 56:701-706.