Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Miriam DiMaio"'
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 100-112 (2024)
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic path
Externí odkaz:
https://doaj.org/article/4eb643cea5714bf28179c8a5c6d6c2be