Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

doi:10.3390/genes12081128

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Article

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Genes - 25 Jul 2021

Nakaguma Marilena, Ferreira Nathalia Garcia Bianchi Pereira, Benedetti Anna Flavia Figueredo, Madi Mariana Cotarelli, Silva Juliana Moreira, Li Jun Z, Ma Qianyi, Bilge Ozel Ayse, Fang Qing, Narcizo Amanda de Moraes, Cardoso Laís Cavalca, Montenegro Luciana Ribeiro, Funari Mariana Ferreira de Assis, Nishi Mirian Yumie, Arnhold Ivo Jorge Prado, Jorge Alexander Augusto de Lima, Mendonca Berenice Bilharinho de, Camper Sally Ann, Carvalho Luciani R

Abstract excerpt

We report four allelic variants (three 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 hemizygous SOX3 allelic variant (p.Met304Ile) was found in a male patient...

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PMID: 34440302
DOI: 10.3390/genes12081128
PMCID: PMC8394260

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