The phenotype of Darier's disease: penetrance and expressivity in adults and children
about
Gene knockout studies of Ca2+-transporting ATPasesManagement of Darier's disease.Spectrum of novel ATP2A2 mutations in patients with Darier's disease.Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.Darier-White disease treated with fractional CO2 laser in two cases.Localized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease.The Golgi Apparatus: Panel Point of Cytosolic Ca(2+) Regulation.Hypopigmented segmental Darier disease.Darier disease.Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.Intellectual disability and cognitive ability in Darier disease: Swedish nation-wide study.ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.Novel ATP2A2 mutations in a large sample of individuals with Darier disease.Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.Segmental type 1 Darier disease: a case series highlighting late-onset disease.Painful nails and white macules.The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.Novel mutations in two families with Darier's disease.The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family studyDisorders of Keratinization
P2860
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P2860
The phenotype of Darier's disease: penetrance and expressivity in adults and children
description
im August 1992 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 August 1992
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 1992
@uk
name
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@en
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@nl
type
label
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@en
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@nl
prefLabel
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@en
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@nl
P2860
P1476
The phenotype of Darier's disease: penetrance and expressivity in adults and children
@en
P2093
P2860
P304
P356
10.1111/J.1365-2133.1992.TB08044.X
P407
P577
1992-08-01T00:00:00Z