Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of theNSD1gene-Reference-Cited by-同舟云学术

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Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of theNSD1gene

Published:2017-03-22 Issue:4 Volume:173 Page:1090-1093
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Abdalla Ebtesam¹²,Bartsch Oliver³,Galetzka Danuta³,Zechner Ulrich³

Affiliation:

1. Faculty of Medicine; Department of Genetic Medicine; King Abdulaziz University; Jeddah Saudi Arabia

2. Department of Human Genetics; Medical Research Institute; Alexandria University; Alexandria Egypt

3. Institute of Human Genetics; University Medical Center of the Johannes Gutenberg University Mainz; Mainz Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Loss-of-function mutation in APC2 causes Sotos syndrome features;Almuriekhi;Cell Rep,2015

2. Sotos syndrome;Baujat;Orphanet J Rare Dis,2007

3. Clinical and molecular overlap in overgrowth syndromes;Baujat;Am J Med Genet Part C,2005

4. Molecular analysis of factor VII deficiency in Italy: A frequent mutation (FVII Lazio) in a repeated intronic region;Bernardi;Hum Genet,1993

5. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth;Cecconi;Am J Med Genet Part A,2005

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