In:
Clinical Case Reports, Wiley, Vol. 10, No. 2 ( 2022-02)
Abstract:
KMT2E ‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebellar hypoplasia, and velopharyngeal dysfunction. This case suggests potential mechanisms of speech disturbance in the disorder, requiring further investigation.
Type of Medium:
Online Resource
ISSN:
2050-0904
,
2050-0904
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
2740234-4
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