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Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

✍ Scribed by Zahid Ahmad; Elaine Zackai; Livija Medne; Abhimanyu Garg


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
200 KB
Volume
152A
Category
Article
ISSN
1552-4825

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A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase