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A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report

E Erden1, A C Ceylan2, S Emre1

  • 1Department of Dermatology and Venereology, Yıldırım Beyazit University, Ankara, Turkey.

Balkan Journal of Medical Genetics : BJMG
|September 21, 2020
PubMed

Keywords:
Hair shaft abnormalityNetherton syndrome (NS)SPINK5 gene mutation

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