Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state

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Authors: Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh

Journal title: Clinica Chimica Acta

Journal number: 473

Journal publisher: Elsevier BV

Published year: 2017

Published pages: 51-59

DOI identifier: 10.1016/j.cca.2017.08.001

ISSN: 0009-8981