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Arslan Satilmis S. B., Kurt E. E., Akcay E. P., SAZCI A., Ceylan A. C.
JOURNAL OF GENE MEDICINE, vol.23, no.2, 2021 (SCI-Expanded)
Article / Article
JOURNAL OF GENE MEDICINE
Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
array comparative genomic hybridization, novel mutation, UBE2A, whole-exome sequencing, X-linked intellectual disability, DEFICIENCY SYNDROME, INDIVIDUALS, SIBLINGS, YIELD
Kocaeli University Affiliated:
Background: X-linked intellectual disability type Nascimento (XIDTN) is a disorder of the ubiquitin-proteasome pathway of protein degradation controlled by the UBE2A gene. The disease is characterized by intellectual disability, speech impairment, dysmorphic facial features, skin and nail anomalies, and, frequently, seizures. Eight affected males from a four-generation family who have intellectual disability and speech disorders were examined within an extended family of 57 individuals.