Case of mandibuloacral dysplasia with type B lipodystrophy

Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confi...

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Príomhchruthaitheoirí: Sanober Burzin Daruwalla (Údar), Rachita S Dhurat (Údar), Smita Ghate (Údar), Rutuja Arali (Údar)
Formáid: LEABHAR
Foilsithe / Cruthaithe: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
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