Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families

A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family

(2013) Xiang Zhou et al.   BONE

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb–polysyndactyly syndrome in a Chinese family and review of the literature

(2013) Limeng Dai et al.   EUROPEAN JOURNAL OF PEDIATRICS

A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning

(2013) Xiuyan Shi et al.   GENE

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

(2012) Aleksander Jamsheer et al.   BMC Medical Genetics

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family

(2012) Binbin Wang et al.   CLINICA CHIMICA ACTA

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft

(2012) Karen J. Low et al.   CLINICAL DYSMORPHOLOGY

Syndactyly: phenotypes, genetics and current classification

(2012) Sajid Malik   EUROPEAN JOURNAL OF HUMAN GENETICS

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly

(2012) Qian Xin et al.   GENE

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning†

(2012) Nathalie Brison et al.   HUMAN MOLECULAR GENETICS

Limb skeletal malformations – What the HOX is going on?

(2011) Nathalie Brison et al.   European Journal of Medical Genetics

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

(2011) Mazen Kurban et al.   JOURNAL OF HUMAN GENETICS

Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly

(2010) Licheng Gong et al.   European Journal of Medical Genetics

Polyalamine repeat expansion mutations in theHOXD13gene in Pakistani families with synpolydactyly

(2009) M Wajid et al.   CLINICAL GENETICS

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

(2009) D Furniss et al.   JOURNAL OF MEDICAL GENETICS

Identification of aHOXD13mutation in a VACTERL patient

(2008) Maria-Mercè Garcia-Barceló et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A