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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mandibuloacral dysplasia
Comorbidity C0023787|lipodystrophy
Sentences 2
PubMedID- 25286833 mada with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin a and lamin c (lmna).
PubMedID- 24623722 A second class of laminopathies involves multiple tissues in different combinations, such as mandibuloacral dysplasia with type a lipodystrophy (mada) and hutchinson–gilford progeria syndrome (hgps; rankin and ellard, 2006; worman and bonne, 2007).

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