Ontology highlight
ABSTRACT:
SUBMITTER: Holder-Espinasse M
PROVIDER: S-EPMC6460637 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Holder-Espinasse Muriel M Jamsheer Aleksander A Escande Fabienne F Andrieux Joris J Petit Florence F Sowinska-Seidler Anna A Socha Magdalena M Jakubiuk-Tomaszuk Anna A Gerard Marion M Mathieu-Dramard Michèle M Cormier-Daire Valérie V Verloes Alain A Toutain Annick A Plessis Ghislaine G Jonveaux Philippe P Baumann Clarisse C David Albert A Farra Chantal C Colin Estelle E Jacquemont Sébastien S Rossi Annick A Mansour Sahar S Ghali Neeti N Moncla Anne A Lahiri Nayana N Hurst Jane J Pollina Elena E Patch Christine C Ahn Joo Wook JW Valat Anne-Sylvie AS Mezel Aurélie A Bourgeot Philippe P Zhang David D Manouvrier-Hanu Sylvie S
European journal of human genetics : EJHG 20190108 4
Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), ...[more]