https://www.selleckchem.com/pr....oducts/Gefitinib.htm
All of them also displayed bilateral progressive cataracts. A fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe intellectual disability and unremarkable brain MRI.Mutant zebrafish larvae had notable malformations of the eye and central nervous system, resembling findings seen in the human holoprosencephaly spectrum. Our findings support the role of biallelic variants in a complex neurodevelopmental disorder, primarily affect
Me gusta
Comentario
Compartir
