Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Kim
H G
HG
Herrick
S R
SR
Lemyre
E
E
Kishikawa
S
S
Salisz
J A
JA
Seminara
S
S
MacDonald
M E
ME
Bruns
G A P
GA
Morton
C C
CC
Quade
B J
BJ
Gusella
J F
JF
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
D008840:Microfilament Proteins; D050506:Mutant Chimeric Proteins; D000070876:Tensins; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1