Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family-Reference-Cited by-同舟云学术

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

Published:2019-05-16 Issue:4 Volume:46 Page:4185-4193
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Lahbib Saida^ORCID,Trabelsi Mediha,Dallali Hamza,Sakka Rania,Bourourou Rym,Kefi Rym,Mrad Ridha,Abdelhak Sonia,Gaddour Naoufel

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-019-04869-6.pdf

Reference47 articles.

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2. Crawford DC, Meadows KL, Newman JL et al (2002) Prevalence of the fragile X syndrome in African–Americans. Am J Med Genet 110:226–233. https://doi.org/10.1002/ajmg.10427

3. Kaufmann WE, Reiss AL (1999) Molecular and cellular genetics of fragile X syndrome. Am J Med Genet 88:11–24

4. Pieretti M, Zhang F, Fu Y-H et al (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817–822

5. Hessl D, Dyer-Friedman J, Glaser B et al (2001) The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics 108:e88–e88

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