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Article

17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2020

Romano Chiara, Ferranti Silvia, Mencarelli Maria Antonietta, Longo Ilaria, Renieri Alessandra, Grosso Salvatore

Abstract excerpt

INTRODUCTION: The short arm of chromosome 17 is characterized by a high density of low copy repeats, creating the opportunity for non-allelic homologous recombination to occur. Microdeletions of the 17p13.3 region are responsible for neuronal migration disorders including isolated lissencephaly sequence and Miller-Dieker syndrome. CASE REPORT: We describe the case of a 4-year and 2-month-old female with peculiar...

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PMID: 32323081
DOI: 10.1007/s10072-020-04424-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.PMID 32323081Read ↗

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