Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However, endocrinological investig...

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Detalles Bibliográficos
Autores principales: Torga, Ana Patricia, Hodax, Juanita, Mori, Mari, Schwab, Jennifer, Quintos, Jose Bernardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189678/
https://www.ncbi.nlm.nih.gov/pubmed/30370152
http://dx.doi.org/10.1155/2018/4283267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189678/
https://www.ncbi.nlm.nih.gov/pubmed/30370152
http://dx.doi.org/10.1155/2018/4283267

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