A familial case of Kallmann syndrome: novel variants in ANOS1 and GNRHR genes

ABSTRACT Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia, stemming from the defective migration of GnRH and olfactory neurons during embryogenesis. This study investigated a multigenerational family with KS, identifying novel m...

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מידע ביבליוגרפי

Principais autores:	Ana L. Piedra Pacheco, Luis F. Moya Porras, Ana B. Santos Rojo, Anthony Hong Lo, Jose E. Esquivel Vargas, Laura Ulate Oviedo
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Sociedade Brasileira de Endocrinologia e Metabologia 2025-11-01
סדרה:	Archives of Endocrinology and Metabolism
נושאים:	Kallmann syndrome hypogonadotropic hypogonadism genotype-phenotype association
גישה מקוונת:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000601500&lng=en&tlng=en
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