Condition: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
rs121918118 in
GHRHR gene and
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
PMID 10084571 1999 Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.
PMID 12534354 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.
PMID 11232012 2001 Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
PMID 9467553 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.
PMID 8528260 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.