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

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

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #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

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

New finding from IchilovG on Twitter/X! twitter.com/ejhg_journal...

#NovelGene #MorbidGene

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

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 …

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

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

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

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

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...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/14bCPFQ

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features #RareDisease #Genetics #morbidgene t.co/9pmnYC6daP

New finding from FranMartinezGr on Twitter/X! ift.tt/USLXp5C

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy #RareDisease #Genetics #morbidgene t.co/4LuCN7PX5O

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/DHsId9y

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene t.co/GuL7jsEjdA

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/K0ySoZd

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency #RareDisease #Genetics #morbidgene t.co/0938cLxnVt

New finding from FranMartinezGr on Twitter/X! ift.tt/7Zk3Yct

The involvement of TNFRSF25 in age-related hearing loss #RareDisease #Genetics #morbidgene t.co/q50AjiTlds

New finding from FranMartinezGr on Twitter/X! ift.tt/z6B3mDS

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/3zirKCEz9A

New finding from IchilovG on Twitter/X! twitter.com/AJHGNews/sta...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/72aNVfC

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly #RareDisease #Genetics #mor…

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene t.co/roFsq2zR6C