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...

Descripción completa

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

Ejemplares similares

Ejemplares similares