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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 J Rare Dis. 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0.
Orphanet J Rare Dis. 2019.
PMID: 31856865
Free PMC article.
BACKGROUND: Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. ...Minor criteria were (generalized or partial) lipoatrophy of the extremities, join …
BACKGROUND: Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging di …
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D, Dridi H, Levy J, Lambert V, Lambert M, Agha M, Adjimi F, Kohlhase J, Lipsker D, Verloes A.
Haye D, et al.
Am J Med Genet A. 2016 Oct;170(10):2750-5. doi: 10.1002/ajmg.a.37825. Epub 2016 Jul 13.
Am J Med Genet A. 2016.
PMID: 27410998
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. ...Newly recognized signs for mandibuloacral dysplasia with …
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease character …
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