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

doi:10.1186/s13023-019-1269-0

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 journal › Article › Academic › peer-review

Original language	English
Article number	294
Number of pages	9
Journal	Orphanet Journal of Rare Diseases
Volume	14
Issue number	1
DOIs	https://doi.org/10.1186/s13023-019-1269-0
Publication status	Published - 19 Dec 2019

Keywords

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

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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

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. / 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. In: Orphanet Journal of Rare Diseases. 2019 ; Vol. 14, No. 1.

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keywords = "Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, LMNA MUTATION, METALLOPROTEINASE, LIPODYSTROPHY, PROGERIA",

author = "Hitzert, {M. M.} and {van der Crabben}, {S. N.} and G. Baldewsingh and {van Amstel}, {H. K. Ploos} and {van den Wijngaard}, A. and {van Ravenswaaij-Arts}, {C. M. A.} and Zijlmans, {C. W. R.}",

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Hitzert, MM, van der Crabben, SN, Baldewsingh, G, van Amstel, HKP, van den Wijngaard, A, van Ravenswaaij-Arts, CMA & Zijlmans, CWR 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, vol. 14, no. 1, 294. https://doi.org/10.1186/s13023-019-1269-0

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. / 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.

In: Orphanet Journal of Rare Diseases, Vol. 14, No. 1, 294, 19.12.2019.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Mandibuloacral dysplasia type B (MADB)

T2 - a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

AU - Hitzert, M. M.

AU - van der Crabben, S. N.

AU - Baldewsingh, G.

AU - van Amstel, H. K. Ploos

AU - van den Wijngaard, A.

AU - van Ravenswaaij-Arts, C. M. A.

AU - Zijlmans, C. W. R.

PY - 2019/12/19

Y1 - 2019/12/19

KW - Mandibuloacral dysplasia with type B lipodystrophy

KW - ZMPSTE24 gene

KW - Suriname

KW - Diagnostic criteria

KW - LMNA MUTATION

KW - METALLOPROTEINASE

KW - LIPODYSTROPHY

KW - PROGERIA

U2 - 10.1186/s13023-019-1269-0

DO - 10.1186/s13023-019-1269-0

M3 - Article

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JO - Orphanet Journal of Rare Diseases

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SN - 1750-1172

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Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA et al. 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. 2019 Dec 19;14(1). 294. https://doi.org/10.1186/s13023-019-1269-0