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Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome

We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of...

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Detalles Bibliográficos
Autores principales: Miyoshi, Yoko, Taniike, Masako, Mohri, Ikuko, Mushiake, Sotaro, Nakajima, Shigeo, Matsumoto, Naomichi, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004909/
https://www.ncbi.nlm.nih.gov/pubmed/24790293
http://dx.doi.org/10.1297/cpe.13.17