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...

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Principais autores:	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
格式:	Artigo
語言:	Inglês
出版:	BMC 2019-12-01
叢編:	Orphanet Journal of Rare Diseases
主題:	Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 gene Suriname Diagnostic criteria
在線閱讀:	https://doi.org/10.1186/s13023-019-1269-0
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