title: KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.
authors: Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
authors: F
authors: F
authors: Morice-Picard
authors: Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
authors: N
authors: N
authors: Jonca
authors: Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
authors: M
authors: M
authors: Pichery
authors: Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
authors: D
authors: D
authors: Mermin
authors: Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
authors: C
authors: C
authors: Leauté-Labrèze
authors: Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
authors: A
authors: A
authors: Taïeb
authors: Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
authors: J
authors: J
authors: Mazereeuw-Hautier
authors: Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
authors: F
authors: F
authors: Boralevi
mesh_terms: D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D018832:Molecular Chaperones; C110856:proteasome maturation protein; D004247:DNA