Next-Generation Sequencing-Based Genetic Testing For Familial Partial Lipodystrophy

ABSTRACT: Objective: Familial partial lipodystrophy (FPL) of the Dunnigan type (FPLD) is an autosomal dominant condition characterized by fat loss in the limbs and trunk, fat accumulation in the head and neck, and early onset diabetes mellitus. Here we describe the establishment and utilization of n...

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Main Authors: Hesarghatta Shyamasunder Asha, MBBS, MD, DNB (Endo), Aaron Chapla, MSc, Shrinath Shetty, MBBS, MD, Nihal Thomas, MBBS, MD, MNAMS, DNB (Endo), FRACP (Endo), FRCP (Edin), FRCP (Glasg)
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520303655