MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
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DOI: 10.1007/s00439-021-02383-z
Abstract: Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders… read more here.
Keywords: clinical molecular; associated neurodevelopmental; disorder description; disorder ... See more keywords