Article

Allelic Variants in Established Hypopituitarism Genes Expands Our Knowledge of Phenotypic Spectrum

2021-05-21

Abstract excerpt

We report four allelic variants (3 novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p. Phe 57Leufs * 43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents. A SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and...

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Literature Corpus work: bb156f53-c1c6-53a8-9ed4-33d877472f68
DOI: 10.20944/preprints202105.0521.v1

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