Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
Author:
Funder
Science and Engineering Research Board
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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3. Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma;Epilepsia;2020-11-17
4. FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms;International Journal of Molecular Sciences;2019-08-26
5. Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report;IRAN J MED SCI;2019
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