A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome-Reference-Cited by-同舟云学术

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Published:2012-05-02 Issue:11 Volume:20 Page:1134-1140
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Al-Haggar Mohammad,Madej-Pilarczyk Agnieszka,Kozlowski Lukasz,Bujnicki Janusz M,Yahia Sohier,Abdel-Hadi Dina,Shams Amany,Ahmad Nermin,Hamed Sahar,Puzianowska-Kuznicka Monika

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201277.pdf

Reference43 articles.

1. Novelli G, Muchir A, Sangiuolo F et al: Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C. Am J Hum Genet 2002; 71: 426–431.

2. Agarwal AK, Fryns JP, Auchus RJ, Garg A : Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 2003; 12: 1995–2001.

3. Shen JJ, Brown CA, Lupski JR, Potocki L : Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet 2003; 40: 854–857.

4. Garavelli L, D'Apice MR, Rivieri F et al: Mandibuloacral dysplasia type A in childhood. Am J Med Genet A 2009; 149A: 2258–2264.

5. Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK : A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab 2005; 90: 5259–5264.

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