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Article

Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2023

Gregory Louise C, Cionna Cecilia, Cerbone Manuela, Dattani Mehul T

Abstract excerpt

PURPOSE: Congenital hypopituitarism (CH) disorders are phenotypically variable. Variants in multiple genes are associated with these disorders, with variable penetrance and inheritance. METHODS: We screened a large cohort (N = 1765) of patients with or at risk of CH using Sanger sequencing, selected according to phenotype, and conducted next-generation sequencing (NGS) in 51 families within our cohort. We report...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37165954
DOI: 10.1016/j.gim.2023.100881

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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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