Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented...

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Detalles Bibliográficos
Autores principales: Watanabe, Keisuke, Noguchi, Atsuko, Takahashi, Ikuko, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184466/
https://www.ncbi.nlm.nih.gov/pubmed/35680838
http://dx.doi.org/10.1038/s41439-022-00196-8

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