Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

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

(2012) Mohammad Al-Haggar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

(2011) Rubén Cabanillas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

(2010) Zahid Ahmad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Laminopathies and lamin-associated signaling pathways

(2010) Nadir M. Maraldi et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance

(2009) Lili Liang et al.   ACTA PAEDIATRICA

Mandibuloacral dysplasia type A in childhood

(2009) L. Garavelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527CysLMNAMutation

(2008) Anil K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM