Phenotypic heterogeneity of ZMPSTE24 deficiency
Author:
Affiliation:
1. Department of MedicineVanderbilt University Medical CenterNashvilleTennessee
2. Department of PediatricsVanderbilt University Medical CenterNashvilleTennessee
Funder
National Human Genome Research Institute
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38493
Reference25 articles.
1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
2. Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency
3. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity
4. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24
5. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity
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