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Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.
Watanabe, Keisuke; Noguchi, Atsuko; Takahashi, Ikuko; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Takahashi, Tsutomu.
Afiliación
  • Watanabe K; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
  • Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan. atsuko@doc.med.akita-u.ac.jp.
  • Takahashi I; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
  • Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
  • Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
  • Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
  • Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
Hum Genome Var ; 9(1): 23, 2022 Jun 09.
Article en En | MEDLINE | ID: mdl-35680838
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 with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido