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Article

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Clinical endocrinology - 1 Mar 2018

Correa Fernanda A, Jorge Alexander Al, Nakaguma Marilena, Canton Ana Pm, Costa Silvia S, Funari Mariana F, Lerario Antonio M, Franca Marcela M, Carvalho Luciani R, Krepischi Ana Cv, Arnhold Ivo Jp, Rosenberg Carla, Mendonca Berenice B

Abstract excerpt

OBJECTIVES: The aetiology of congenital hypopituitarism (CH) is unknown in most patients. Rare copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology. Our aim was to study the presence of CNVs and their pathogenicity in patients with idiopathic CH associated with complex phenotypes. DESIGN AND PATIENTS: We selected 39 patients with syndromic CH for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29265571
DOI: 10.1111/cen.13535

Genes

TRPS1

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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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