https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1090082/full
Frontiers | Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a...
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small...
case reportcompound heterozygosity
https://en.wikipedia.org/wiki/Compound_heterozygosity
Compound heterozygosity - Wikipedia
compound heterozygositywikipedia
https://pmc.ncbi.nlm.nih.gov/articles/PMC12698500/
Familial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case...
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder caused by MEFV mutations. Exon 10 variants such as M694V are high-penetrance...
familial mediterranean fever