A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis-Reference-Cited by-同舟云学术

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

Published:2009-03 Issue:2-3 Volume:52 Page:123-127
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Pariani Mitchel J.,Spencer Andrew,Graham John M.,Rimoin David L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

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2. Spectrum of FOXL2 gene mutations in blepharophimosis–ptosis–epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation;De Baere;Hum. Mol. Genet.,2001

3. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2;Dode;PLOS Genet.,2006

4. Molecular evolution of FOXP2, a gene involved in speech and language;Enard;Nature,2002

5. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11-p14.2);Hertz;Hum. Genet.,1988

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