Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation | Zendy

Anil K. Agarwal | Zendy; Irina Kazachkova | Zendy; Svetlana Ten | Zendy; Abhimanyu Garg | Zendy

Open Access

Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation

Author(s) -

Anil K. Agarwal,

Irina Kazachkova,

Svetlana Ten,

Abhimanyu Garg

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-0123

Subject(s) - lmna , progeria , lamin , lipodystrophy , biology , missense mutation , short stature , hypoplasia , endocrinology , medicine , genetics , pathology , mutation , anatomy , gene , virus , antiretroviral therapy , viral load

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding nuclear lamina proteins, lamins A/C (LMNA) or prelamin A processing enzyme, and zinc metalloproteinase (ZMPSTE24).

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