Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene. #morbidgene #RareDisease #Genetics jmg.bmj.com/content/early/…
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. #RareDisease #Genetics #morbidgene sciencedirect.com/science/articl…
Prof Andrew Wilkie Wilkie Lab eloquently presents Manchester Rare Conditions Centre #MDC23 on three mechanisms by CNV that cause craniosynostosis with two novel disease loci: FOXD3 and FGF5 #MorbidGene
Session 4 on day 2 of #MDC23 kicked off by John McDermott describing an acute onset axonal neuropathy with encephalopathy (ANE) precipitated by infection caused by biallelic variants in RCC1: a novel form of recessive ANE #MorbidGene
Bill Newman of Manchester Rare Conditions Centre Evolution, Infection and Genomics (EIG) UoM presents the clinical landscape of Perrault syndrome at #MDC23 and describes 3 further genes causing overlapping phenotypes: DAP3, MRPL49 and GPN2 due to mitochondrial protein translation distribution #MorbidGene
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. #RareDisease #Genetics #morbidgene nature.com/articles/s4143…
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases #MorbidGene
academic.oup.com/braincomms/art…
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-ar…
RT Francisco Martínez: Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. #RareDisease #Genetics #morbidgene nature.com/articles/s4143…
This week’s recessive cardiomyopathy gene is LMOD2 – perhaps one of the most interesting genes highlighted by our work in Nature Cardiovascular Research nature.com/articles/s4416…
…check its synopsis below! 🫀🧬
#recessiveCMgenes #MorbidGene #cardiogen
RT Francisco Martínez: Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. #RareDisease #Genetics #morbidgene nature.com/articles/s4143…
RT Konrad Platzer: #MARK2 is a new #MorbidGene 👇
medrxiv.org/content/10.110… x.com/medrxivpreprin…
RT Francisco Martínez: Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene. #morbidgene #RareDisease #Genetics jmg.bmj.com/content/early/…
