Phenotypic Variability of Males with Loss-of-Function Mutations of MKRN3: A Case Report and Literature Review
We demonstrated a marked male phenotypic variability associated with MKRN3 mutations and suggested a large proportion of underdiagnosed male cases in previous descriptions. Additionally, incomplete penetrance involving males with paternally inherited MKRN3 mutations cannot be ruled out to date.
Authors
- Ana Cláudia Latronico (ORCID: https://orcid.org/0000-0001-6782-693X)
- Luciana Ribeiro Montenegro
- Masahiro Yamanaka
- Larissa Baracho Macena
- Ana Pinheiro Machado Canton (ORCID: https://orcid.org/0000-0001-8662-5412)
- Aline Almeida Bastos
- Vinicius Nahime Brito (ORCID: https://orcid.org/0000-0003-4140-6296)
Institutions
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1159/000549607
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00