New clinico-genetic classification of trichothiodystrophy.

New clinico-genetic classification of trichothiodystrophy.

Item
http://www.wikidata.org/entity/Q55052146
Care of the newborn with ichthyosis.Trichothiodystrophy in a child with occult learning disorder.Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review.Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms.A practical approach to ichthyoses with systemic manifestations.Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy.Developmental Delays, Fragile Hair, and Ichthyosis Since Infancy.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
P2860

New clinico-genetic classification of trichothiodystrophy.

Item
http://www.wikidata.org/entity/Q55052146
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
New clinico-genetic classification of trichothiodystrophy.
@en
New clinico-genetic classification of trichothiodystrophy.
@nl
type
label
New clinico-genetic classification of trichothiodystrophy.
@en
New clinico-genetic classification of trichothiodystrophy.
@nl
prefLabel
New clinico-genetic classification of trichothiodystrophy.
@en
New clinico-genetic classification of trichothiodystrophy.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
New clinico-genetic classification of trichothiodystrophy.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698