title: Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.
authors.affiliation: Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, Level B, St Michael's Hospital, Bristol, UK.
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Low
authors.forename: Ruth A
authors.initials: RA
authors.lastname: Nwbury-Ecob
mesh_terms: D002971:Cleft Lip / Q000235:genetics / Q000601:surgery; D018389:Codon, Nonsense / Q000235:genetics*; D003241:Consanguinity; D005091:Exons; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D015997:Neonatal Screening; D010443:Peptide Chain Termination, Translational; D010641:Phenotype; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors