Article
An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
The Journal of clinical endocrinology and metabolism - 1 Feb 2007
David A, Camacho-Hübner C, Bhangoo A, Rose S J, Miraki-Moud F, Akker S A, Butler G E, Ten S, Clayton P E, Clark A J L, Savage M O, Metherell L A
Abstract excerpt
CONTEXT: Inherited GH insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and may have midfacial hypoplasia (typical Laron syndrome facial features). We previously described four mildly affected GHI patients with an intronic mutation in the GHR gene (A(-1)-->G(-1) substitution in intron 6), resulting in the...
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