Ontology highlight
ABSTRACT:
SUBMITTER: Hong S
PROVIDER: S-EPMC5062582 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Hong Sungkook S Hu Ping P Marino Juliana J Hufnagel Sophia B SB Hopkin Robert J RJ Toromanović Alma A Richieri-Costa Antonio A Ribeiro-Bicudo Lucilene A LA Kruszka Paul P Roessler Erich E Muenke Maximilian M
Human molecular genetics 20160229 10
Mutations in FGFR1 have recently been associated with Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequently includes combinations of craniofacial, limb and brain abnormalities not typical for classical HPE. Unrelated clinical conditions generally without craniofacial or multi-system malformations include Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. FGFR1 is a principal cause for these less severe diseases as wel ...[more]