(Q35775902)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15148554%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Central osteosclerosis with trichothiodystrophy (English)

1 reference

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28 December 2019

1

1 reference

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28 December 2019

author name string

Michele Cruwys

2

1 reference

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28 December 2019

Mohnish Suri

3

1 reference

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28 December 2019

Angela F Brady

4

1 reference

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28 December 2019

Sarah E Aylett

5

1 reference

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28 December 2019

Christine Hall

6

1 reference

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28 December 2019

publication date

18 May 2004

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28 December 2019

1 reference

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28 December 2019

volume

34

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28 December 2019

issue

7

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28 December 2019

page(s)

541-546

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Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature

28 December 2019

cites work

1 reference

12 December 2020

Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

1 reference

12 December 2020

Syndromes associated with trichothiodystrophy

1 reference

12 December 2020

Orthopaedic rehabilitation in a case of Tay-syndrome

1 reference

12 December 2020

Distinctive skeletal dysplasia in Cockayne syndrome.

1 reference

12 December 2020

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation

1 reference

12 December 2020

Premature aging in mice deficient in DNA repair and transcription

1 reference

12 December 2020

The trichothiodystrophy syndrome of Pollitt

1 reference

12 December 2020

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

1 reference

12 December 2020

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

1 reference

12 December 2020

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

12 December 2020

Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis

1 reference

12 December 2020

Ichthyosis and osteopetrosis

1 reference

12 December 2020