Split-hand/foot malformation - molecular cause and implications in genetic counseling

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

(2011) S Khan et al.   CLINICAL GENETICS

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

(2011) Susanne Bens et al.   European Journal of Medical Genetics

Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

(2011) Eva Klopocki et al.   JOURNAL OF MEDICAL GENETICS

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

(2011) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance

(2010) Ariane Blattner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

(2010) Evelyn N. Kouwenhoven et al.   PLoS Genetics

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

(2009) Anneke T van Silfhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

(2009) B. I. Dimitrov et al.   JOURNAL OF MEDICAL GENETICS

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

(2008) N. Lo Iacono et al.   DEVELOPMENT

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

(2008) Karina Lezirovitz et al.   HUMAN GENETICS

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

(2008) Sibel Aylin Ugur et al.   HUMAN MOLECULAR GENETICS