Trichothiodystrophy with sideroblastic anaemia and developmental delay.

about

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

P2860

Q24633351-180E7728-9470-4B0D-B93C-A2B9DE674866 Q35924632-228BBEFC-6C71-4369-BC64-B9FE71246D70

P2860

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

Item

http://www.wikidata.org/entity/Q42113248

description

1995 nî lūn-bûn

@nan

1995年の論文

@ja

1995年論文

@yue

1995年論文

@zh-hant

1995年論文

@zh-hk

1995年論文

@zh-mo

1995年論文

@zh-tw

1995年论文

@wuu

1995年论文

@zh

1995年论文

@zh-cn

name

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@en

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@nl

type

Item

label

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@en

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@nl

prefLabel

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@en

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@nl

P1476

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

@en

P2093

Lamb WH

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Lehmann AR

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Lynch SA

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Pollitt RJ

http://www.w3.org/2001/XMLSchema#string

Reid MM

http://www.w3.org/2001/XMLSchema#string

de Berker D

http://www.w3.org/2001/XMLSchema#string

P2860

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

P304

249-251

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P31

scholarly article

P356

10.1136/ADC.73.3.249

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

1995-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

15707267

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P698

7492166

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P932

1511270

http://www.w3.org/2001/XMLSchema#string

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

about

P2860

P2860

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932