New finding from FranMartinezGr on Twitter/X! ift.tt/iwHZ9xu
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction #RareDisease #Genetics #morbidgene …
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
#NovelGene #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/JzTix0d
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity #RareDisease #Genetics #morbidgene t.co/ZvBxvgWxQ6
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity #RareDisease #Genetics #morbidgene www.biorxiv.org/content/10.1...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
#NovelGene #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/6YIuoNl
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease #RareDisease #Genetics #morbidgene
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
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'KDM2A-related neurodevelopmental disorder with growth restriction' added to DDG2P. Monoallelic variants in KDM2A cause a disorder characterised by intellectual disability, growth issues, feeding difficulties, and recurrent facial features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/JMOU2fm
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality #RareDisease #Genetics #morbidgene t.co/7itzOYQLlS
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
New finding from FranMartinezGr on Twitter/X! ift.tt/1Qx9cIZ
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension #RareDisease #Genetics #morbidgene #newphenotype t.co/io0RaIvLpR
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension #RareDisease #Genetics #morbidgene #newphenotype www.sciencedirect.com/science/arti...
New finding from IchilovG on Twitter/X! twitter.com/ejhg_journal...
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New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
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New finding from FranMartinezGr on Twitter/X! ift.tt/q8s5TSb
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity #RareDisease #Genetics #morbidgene …
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
#NovelGene #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/UODoY4L
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome #RareDisease #Genetics #morbidgene t.co/ZGSwPOyBt6
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
#NovelGene #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/EP4JjXu
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism #RareDisease #Genetics #morbidgene t.co/5AKYvKgPFh
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
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New finding from FranMartinezGr on Twitter/X! ift.tt/2Xgn9B7
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics #RareDisease #Genetics #morbidgene t.co/ndvATzUk7t
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
#NovelGene #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/mZLxrBh
A Homozygous Nonsense Variant in the Oligosaccharyltransferase Complex Gene, RPN1, Causes a Congenital Disorder of Glycosylation #RareDisease #Genetics #morbidgene …
New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...
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