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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924056/
https://www.ncbi.nlm.nih.gov/pubmed/31856865
http://dx.doi.org/10.1186/s13023-019-1269-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924056/
https://www.ncbi.nlm.nih.gov/pubmed/31856865
http://dx.doi.org/10.1186/s13023-019-1269-0

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