Literature DB >> 25629449

Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis.

Julia M Kwan1.   

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Year:  2015        PMID： 25629449     DOI： 10.1001/jamadermatol.2014.5068

Source DB:  PubMed          Journal:  JAMA Dermatol        ISSN： 2168-6068            Impact factor:   10.282


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  2 in total

1.  Phenotypic heterogeneity of ZMPSTE24 deficiency.

Authors:  Thomas A Cassini; Amy K Robertson; Anna G Bican; Joy D Cogan; Vickie L Hannig; John H Newman; Rizwan Hamid; John A Phillips
Journal:  Am J Med Genet A       Date:  2018-01-17       Impact factor: 2.802

2.  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.

Authors:  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
Journal:  Orphanet J Rare Dis       Date:  2019-12-19       Impact factor: 4.123
  2 in total

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