Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Author:

Ozer Leyla,Unsal Evrim,Aktuna Suleyman,Baltaci Volkan,Celikkol Pelin,Akyigit Fatma,Sen Askin,Ayvaz Ozge,Balci Sevim

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference22 articles.

1. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy;Agarwal;J Clin Endocrinol Metab,2002

2. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia;Agarwal;Hum Mol Genet,2003

3. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome;Al-Haggar;Eur J Hum Genet,2012

4. Mandibuloacral dysplasia caused by LMNA mutations and uniparental disomy;Bai;Case Rep Genet,2014

5. Familial acroosteolysis with progressive systemic sclerosis;Balci;Hacettepe Tip Cerrahi Bülteni,1975

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