Clin Genet. 2023 Jun 13. doi: 10.1111/cge.14390. Online ahead of print.
ABSTRACT
A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.
PMID:37311648 | DOI:10.1111/cge.14390
