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Article

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

European journal of endocrinology - 1 Jun 2010

Spiegel Ronen, Shalev Stavit A, Adawi Amin, Sprecher Eli, Tenenbaum-Rakover Yardena

Abstract excerpt

OBJECTIVE AND DESIGN: A homozygous loss-of-function mutation in the gene RBM28 was recently reported to underlie alopecia, neurological defects, and endocrinopathy (ANE) syndrome. The aim of the present study was to characterize the endocrine phenotype of ANE syndrome and to delineate its pathogenesis. METHODS: Detailed neuroendocrine assessment was performed in five affected male siblings harboring the...

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Source

Identifiers

PMID: 20231366
DOI: 10.1530/EJE-10-0077

Genes

RBM28
IGF1
TRH

Provenance

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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