Renpenning Syndrome in a Turkish Patient: de novo Variant...

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Molecular Syndromology 2020 / 4

Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype

Kurt Colak, Fatma, Eyerci, Nilnur, Aytekin, Caner, Eksioglu, Ayse S.
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Journal:
Molecular Syndromology
DOI:
10.1159/000507562
Date:
April, 2020
File:
PDF, 476 KB
2020
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