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Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3

Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fib...

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Detalles Bibliográficos
Autores principales: Hirai, Hiroki, Hamada, Junpei, Hasegawa, Kosei, Ishii, Eiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627223/
https://www.ncbi.nlm.nih.gov/pubmed/29026271
http://dx.doi.org/10.1297/cpe.26.223