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@franmartinezgr.bsky.social Oct 6, 2026, 5:50 PM

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I #RareDisease #Genetics #newphenotype #morbidgene www.cell.com/ajhg/fulltex...

@franmartinezgr.bsky.social Oct 2, 2026, 5:35 PM

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability #RareDisease #Genetics #NewPhenotype #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

@franmartinezgr.bsky.social Sep 23, 2026, 6:15 PM

5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder #RareDisease #Genetics #NewPhenotype #NewMOI www.nature.com/articles/s41...

@franmartinezgr.bsky.social Sep 21, 2026, 6:26 PM

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies #RareDisease #Genetics #NewPhenotype #morbidgene www.cell.com/ajhg/abstrac...