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Article

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

The Journal of clinical endocrinology and metabolism - 1 Apr 2015

Lucas-Herald Angela K, Kinning Esther, Iida Aritoshi, Wang Zheng, Miyake Noriko, Ikegawa Shiro, McNeilly Jane, Ahmed S Faisal

Abstract excerpt

CONTEXT: Ciliopathies are a group of rare conditions that present through a wide range of manifestations. Given the relative common occurrence of defects of the GH/IGF-I axis in children with short stature and growth retardation, the association between ciliopathies and these defects needs further attention. CASE: Our patient is a boy who was born at term and noted to have early growth retardation and weight gain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25664603
DOI: 10.1210/jc.2014-3852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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