Ontology highlight
ABSTRACT:
SUBMITTER: Fusco C
PROVIDER: S-EPMC5423807 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Fusco Carmela C Nittis Pasquelena De P Alfaiz Ali Abdullah AA Pellico Maria Teresa MT Augello Bartolomeo B Malerba Natascia N Zelante Leopoldo L Reymond Alexandre A Merla Giuseppe G
Journal of pediatric genetics 20160831 2
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the <i>BHLHA9</i> gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait. Here, we present a family with three members affected by SHFLD harborin ...[more]