A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
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A. Munnich | D. Lessel | C. Kubisch | Nathalie Da Silva | A. De Sandre-Giovannoli | C. Navarro | P. Roll | M. Chaouch | Lamia Ali Pacha | Abdelkrim Saadi | O. Ozalp | Nicolas Levy | Athmane Chaouch | Racha Fayek | C. Lourenço | Meryem Benahmed | Annachiara De Sandre-Giovannoli
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