KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation

KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the...

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Veröffentlicht in:	Journal of the European Academy of Dermatology and Venereology 2017-03, Vol.31 (3), p.e154-e156
Hauptverfasser:	Morice‐Picard, F., Jonca, N., Pichery, M., Mermin, D., Leauté‐Labrèze, C., Taïeb, A., Mazereeuw‐Hautier, J., Boralevi, F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Diagnosis, Differential DNA / genetics DNA Mutational Analysis Human health and pathology Humans Infectious diseases Life Sciences Male Molecular Chaperones / genetics Molecular Chaperones / metabolism Mutation Phenotype Skin / pathology Skin Abnormalities / diagnosis Skin Abnormalities / genetics Skin Abnormalities / metabolism Skin Diseases, Genetic / diagnosis Skin Diseases, Genetic / genetics Skin Diseases, Genetic / metabolism
Online-Zugang:	Volltext
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