Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain‐of‐function A391E mutation in FGFR3 gene

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Bibliographic Details
Published in:Journal of dermatology 2020-12, Vol.47 (12), p.e451-e452
Main Authors: Kariya, Hitomi, Nakano, Hajime, Ishii, Naomi, Kaimi, Yuto, Imai, Keisuke, Nakanishi, Yoko, Kunihiro, Noritsugu, Fukai, Kazuyoshi
Format: Article
Language:English
Subjects:
Acanthosis nigricans
Acanthosis Nigricans - diagnosis
Acanthosis Nigricans - genetics
Craniofacial Dysostosis - diagnosis
Craniofacial Dysostosis - genetics
Crouzon syndrome
Fibroblast growth factor receptors
Gain of Function Mutation
Humans
Hyperpigmentation
Mutation
Receptor, Fibroblast Growth Factor, Type 3 - genetics
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ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.15580