Article
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
Journal of medical genetics - 1 Jun 2020
Patni Nivedita, Hatab Sarah, Xing Chao, Zhou Zhengyang, Quittner Claudia, Garg Abhimanyu
Abstract excerpt
BACKGROUND: Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained. CASES: We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat with diabetes mellitus,...
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