title: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
authors.forename: H G
authors.initials: HG
authors.lastname: Kim
authors.forename: S R
authors.initials: SR
authors.lastname: Herrick
authors.forename: E
authors.initials: E
authors.lastname: Lemyre
authors.forename: S
authors.initials: S
authors.lastname: Kishikawa
authors.forename: J A
authors.initials: JA
authors.lastname: Salisz
authors.forename: S
authors.initials: S
authors.lastname: Seminara
authors.forename: M E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: G A P
authors.initials: GA
authors.lastname: Bruns
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
authors.forename: B J
authors.initials: BJ
authors.lastname: Quade
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
mesh_terms: D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D050506:Mutant Chimeric Proteins / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D000070876:Tensins; D014178:Translocation, Genetic
chemical_list: D008840:Microfilament Proteins; D050506:Mutant Chimeric Proteins; D000070876:Tensins; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1