Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.
about
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsXeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationshipDiseases associated with defective responses to DNA damageUnknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated casesCongenital cataract and multisystem disorders.Premature aging and cancer in nucleotide excision repair-disorders.Ectodermal dysplasias: a new clinical-genetic classificationMutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activitiesBone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy miceTay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.Trichothiodystrophy in a child with occult learning disorder.Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review.Hair shaft dysplasias.The ichthyoses--pathogenesis and prenatal diagnosis: a review of recent advances.Menkes's syndrome.Photodermatoses. Part II: Chemical photodermatoses and dermatoses that can be exacerbated, precipitated, or provoked by light.Hair shaft abnormalities: Part II.Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex?Bubble hair.Raman spectroscopy analysis of protein structure of hair in patients with trichothiodystrophy.A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy.A new case of trichothiodystrophy associated with autism, seizures, and mental retardation.Trichothiodystrophy without associated neuroectodermal defects.Trichothiodystrophy associated with urologic malformation and primary hypercalciuria.Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.Trichothiodystrophy without retardation: one patient exhibiting transient combined immunodeficiency syndrome.Trichothiodystrophy.Disorders of Keratinization
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P2860
Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年学术文章
@wuu
1980年学术文章
@zh
1980年学术文章
@zh-cn
1980年学术文章
@zh-hans
1980年学术文章
@zh-my
1980年学术文章
@zh-sg
1980年學術文章
@yue
1980年學術文章
@zh-hant
name
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@en
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@nl
type
label
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@en
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@nl
prefLabel
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@en
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@nl
P2093
P1433
P1476
Trichothiodystrophy: sulfur-de ...... uroectodermal symptom complex.
@en
P2093
P304
P356
10.1001/ARCHDERM.116.12.1375
P577
1980-12-01T00:00:00Z