Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
about
Revertant mosaicism in genodermatoses.Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation.Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Expanding the Mutation Spectrum of Ichthyosis with Confetti.[Red, scaly baby: a pediatric dermatological emergency : Clinical and differential diagnoses of neonatal erythroderma].A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.
P2860
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P2860
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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name
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@en
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@nl
type
label
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@en
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@nl
prefLabel
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@en
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@nl
P2093
P356
P1476
Expanding the Clinical and Gen ...... in Keratinopathic Ichthyosis.
@en
P2093
Alrun Hotz
Emmanuelle Bourrat
Fanny Morice-Picard
Ines Schönbuchner
Judith Fischer
Juliette Mazereeuw-Hautier
Karola Stieler
Nathalie Jonca
Nina Schlipf
Regina C Betz
P304
P356
10.2340/00015555-2299
P50
P577
2015-11-19T00:00:00Z