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

Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous arginine 527 replacement by histidine. Three female patients originating from two unrelated families from Northeast E...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3476705/
https://ncbi.nlm.nih.gov/pubmed/22549407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.77
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