X-linked congenital ataxia: A new locus maps to Xq25-q27.1 (Q57588282)

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2 January 2020

title

X-linked congenital ataxia: a new locus maps to Xq25-q27.1. (English)

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2 January 2020

1

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2 January 2020

Enrico Bertini

2

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2 January 2020

Brigitte Nedelec

4

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2 January 2020

7

John M Opitz

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2 January 2020

3

Cecelia Bellcross

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2 January 2020

8

Jamel Chelly

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2 January 2020

author name string

Guy Froyen

5

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2 January 2020

Gerhard Neuhäuser

6

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2 January 2020

language of work or name

English

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publication date

1 March 2008

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American Journal of Medical Genetics

2 January 2020

published in

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2 January 2020

volume

146A

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2 January 2020

issue

5

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2 January 2020

page(s)

593-600

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X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32186

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32186

Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32186

Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32186

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.32186

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2 January 2020

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