Article
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Orphanet journal of rare diseases - 19 Dec 2019
Hitzert M M, van der Crabben S N, Baldewsingh G, van Amstel H K Ploos, van den Wijngaard A, van Ravenswaaij-Arts C M A, Zijlmans C W R
Abstract excerpt
BACKGROUND: Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy, insulin resistance, metabolic complications and skeletal features like stunted growth, mandibular and clavicular hypoplasia and acro-osteolysis of the distal phalanges....
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