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Article

Mandibuloacral dysplasia type A in five tunisian patients.

European journal of medical genetics - 1 Feb 2021

R Sakka, H Marmouch, M Trabelsi, A Achour, M Golli, I Hannachi, E Kerkeni, K Monastiri, F Maazoul, R M'rad

Abstract excerpt

Mandibuloacral dysplasia with type A lipodystrophy is a rare autosomal recessive disorder characterized by craniofacial dysmorphism, type A lipodystrophy, clavicular dysplasia, and acroostelolysis. It is caused by homozygous or compound heterozygous missense mutations in LMNA gene. We report five Tunisian patients harboring the same homozygous c.1580G > A; p. (Arg527His) mutation in LMNA gene. The patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33422685
DOI: 10.1016/j.ejmg.2021.104138

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