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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number294
Number of pages9
JournalOrphanet Journal of Rare Diseases
Volume14
Issue number1
DOIs
Publication statusPublished - 19 Dec 2019

Keywords

  • Mandibuloacral dysplasia with type B lipodystrophy
  • ZMPSTE24 gene
  • Suriname
  • Diagnostic criteria
  • LMNA MUTATION
  • METALLOPROTEINASE
  • LIPODYSTROPHY
  • PROGERIA

Cite this

Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. P., van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., & Zijlmans, C. W. R. (2019). 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, 14(1), [294]. https://doi.org/10.1186/s13023-019-1269-0