Ontology highlight
ABSTRACT:
SUBMITTER: Ullah A
PROVIDER: S-EPMC5465671 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Ullah Asmat A Hammid Anam A Umair Muhammad M Ahmad Wasim W
Molecular syndromology 20161220 2
Split-hand and foot malformation (SHFM; MIM 183600) is a rare human genetic limb malformation. It is characterized by missing digital rays in the hands and feet. SHFMs vary in severity from mild abnormalities affecting a single limb to acute malformations involving all 4 limbs. It is inherited, as part of both a syndromic and nonsyndromic disorder, in an autosomal recessive, autosomal dominant, and X-linked patterns. So far, 9 loci of hand and foot malformation have been mapped on human chromoso ...[more]