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Article

Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2005

Desai Meena P, Upadhye Pradnya S, Kamijo Takashi, Yamamoto Michiyo, Ogawa Masamichi, Hayashi Yoshitaka, Seo Hisao, Nair Shilpa R

Abstract excerpt

BACKGROUND: Various mutations of the growth hormone releasing hormone receptor (GHRH-R) gene have been recently described to cause familial isolated growth hormone (GH) deficiency (FIGHD), with the GHRH-R nonsense mutation E72X reported in patients with FIGHD from South Asia. The molecular genetic basis of FIGHD in Indian children is not known. OBJECTIVE: To look for the GHRH-R E72X non-sense mutation in our...

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Identifiers

PMID: 16355809
DOI: 10.1515/jpem.2005.18.10.955

Genes

GHRH
SDS

Variants

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