Mandibuloacral dysplasia type A in five tunisian patients
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference31 articles.
1. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation;Agarwal;J. Clin. Endocrinol. Metab.,2008
2. 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
3. Mandibuloacral dysplasia caused by LMNA mutations and uniparental disomy;Bai;Case Rep. Genet.,2014
4. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy;Cao;Hum. Mol. Genet.,2000
5. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090);Cao;J. Hum. Genet.,2003
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1. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review;Frontiers in Endocrinology;2024-03-13
2. Tuning between Nuclear Organization and Functionality in Health and Disease;Cells;2023-02-23
3. A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome;American Journal of Medical Genetics Part A;2022-10-21
4. Lipodystrophy-associated progeroid syndromes;Hormones;2022-07-15
5. Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics;Genes;2021-09-26
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