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A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual dis...

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Detalles Bibliográficos
Autores principales: Sotos, Juan, Miller, Katherine, Corsmeier, Donald, Tokar, Naomi, Kelly, Benjamin, Nadella, Vijay, Zhong, Huachun, Wetzel, Amy, Adler, Brent, Yu, Chack-Yung, White, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640965/
https://www.ncbi.nlm.nih.gov/pubmed/29046692
http://dx.doi.org/10.1186/s13633-017-0052-z