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DEAF1GENE.COM

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deaf1gene.com | deaf1gene.com Reviews
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KEYWORDS
1 DEAF1
2 intellectual disability
3 mental retardation
4 syndrome
5 research
6 therapy
7 mutation
8 de novo
9 clinical features
10 gene
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add to database,deaf1 research project,general information,clinical features,research,publications,links,latest publications,mutations in the,mutations
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1

General information

http://deaf1gene.com/general-information.html

Mutations affecting the SAND domain of DEAF1 cause. Am J Hum Genet. 2014 May. Range of genetic mutations associated with severe . Lancet. 2012 Nov. Clinical features: Sofar, only 4 patients with mutations in. Have been reported. All patients have developmental delay/intellectual disability, especially affecting speech development. In addition, severe behavioral problems are observed. For more information see also under clinical features. Gene or by exome/genome sequencing. Genetic counseling: Mutations in.

2

Publications

http://deaf1gene.com/publications.html

Mutations affecting the SAND domain of DEAF1 cause. Am J Hum Genet. 2014 May. Range of genetic mutations associated with severe . Lancet. 2012 Nov. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May; 94 (5): 649-61. doi: 10.1016/j.ajhg.2014.03.013. PMID: 24726472. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

3

Links

http://deaf1gene.com/links.html

Mutations affecting the SAND domain of DEAF1 cause. Am J Hum Genet. 2014 May. Range of genetic mutations associated with severe . Lancet. 2012 Nov. Department of Human Genetics, Radboud University Nijmegen Medical Centre. Desgined by Easy-Changer.Com.

4

Clinical features

http://deaf1gene.com/clinical-features.html

Mutations affecting the SAND domain of DEAF1 cause. Am J Hum Genet. 2014 May. Range of genetic mutations associated with severe . Lancet. 2012 Nov. Frequency of major clinical findings of the deaf1 gene. Abnormal walking pattern (5/5). Intellectual disability / developmental delay (4/5). High pain threshold (4/5). Inheritance: de novo (4/5). Type of mutation: missense (4/5). Intellectual disability / developmental delay. Level of intellectual disability:. Thin and/or fair hair. Cupid's bow in upper lip.

5

Deaf 1 Gene

http://deaf1gene.com/clinical-survey.html

Mutations affecting the SAND domain of DEAF1 cause. Am J Hum Genet. 2014 May. Range of genetic mutations associated with severe . Lancet. 2012 Nov. Desgined by Easy-Changer.Com.

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