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Article

Molecular genetic studies in isolated growth hormone deficiency (IGHD).

Indian journal of pediatrics - 1 Aug 2013

Desai Meena P, Mithbawkar Shilpa M, Upadhye Pradnya S, Rao Sudha C, Bhatia Vijayalakshmi, Vijaykumar Madhava

Abstract excerpt

OBJECTIVE: To screen Isolated Growth Hormone Deficiency (IGHD) patients with congenital Familial Isolated (FIGHD) and Nonfamilial Isolated Growth Hormone Deficiency (NFIGHD) for GH1gene deletions (6.7 kb,7.6 kb,7 kb) and Growth hormone releasing hormone receptor GHRHR(E72X) gene mutation and study genotype/phenotype correlation in this multicentre study. METHODS: Clinical, auxologic (Ht.SDS ≤ -2.5), hormonal and...

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Source

Identifiers

PMID: 23436191
DOI: 10.1007/s12098-013-0982-2

Genes

GHRHR
IGF1
IGFBP3
SDS

Variants

Provenance

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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