Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

Sirchia, Fabio; Giorgio, Elisa; Cucinella, Laura; Valente, Enza Maria; Nappi, Rossella E

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

Sirchia, Fabio; Giorgio, Elisa; Cucinella, Laura; Valente, Enza Maria; Nappi, Rossella E.

Afiliação

Sirchia F; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.
Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Cucinella L; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Valente EM; IRCCS Mondino Foundation, Pavia, Italy.
Nappi RE; Research Center for Reproductive Medicine, Unit of Gynecological Endocrinology and Menopause, IRCCS San Matteo Foundation, Pavia, Italy. laura.cucinella01@universitadipavia.it.

J Assist Reprod Genet ; 39(5): 1177-1181, 2022 May.

Article em En | MEDLINE | ID: mdl-35352317

Assuntos

Amenorreia; Insuficiência Ovariana Primária; Adulto; Amenorreia/genética; Feminino; Humanos; Mutação; Proteínas Nucleares/genética; Insuficiência Ovariana Primária/genética; Transativadores/genética; Sequenciamento do Exoma

Palavras-chave

Next-generation sequencing (NGS); PSMC3IP; Premature ovarian insufficiency (POI); Secondary amenorrhea; Whole-exome sequencing (WES)

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Amenorreia Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google