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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mandibuloacral dysplasia with type B lipodystrophy
ZMPSTE24 gene
Suriname
Diagnostic criteria
Online Access:https://doi.org/10.1186/s13023-019-1269-0

Internet

https://doi.org/10.1186/s13023-019-1269-0

Similar Items