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Article

Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.

Clinical endocrinology - 1 Mar 2012

Tsubahara Mayuko, Hayashi Yoshitaka, Niijima Shin-ichi, Yamamoto Michiyo, Kamijo Takashi, Murata Yoshiharu, Haruna Hidenori, Okumura Akihisa, Shimizu Toshiaki

Abstract excerpt

CONTEXT: Mutations in the GH1 gene have been identified in patients with isolated growth hormone deficiency (IGHD). Mutations causing aberrant splicing of exon 3 of GH1 that have been identified in IGHD are inherited in an autosomal dominant manner, whereas other mutations in GH1 that have been identified in IGHD are inherited in an autosomal recessive manner. OBJECTIVE: Two siblings born from nonconsanguineous...

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PMID: 21933221
DOI: 10.1111/j.1365-2265.2011.04224.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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