A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
Nivedita PatniSarah HatabChao XingZhengyang ZhouClaudia QuittnerAbhimanyu GargPublished in: Journal of medical genetics (2019)
Our report of this unusual familial generalised lipodystrophy syndrome adds to the pleiotropy associated with biallelic autosomal recessive LMNA variants.