Enrico Virgilio
@evirgilio.bsky.social
Reposted by Enrico Virgilio
Microcephaly, epilepsy & diabetes syndrome (MEDS) is a rare disease
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
November 18, 2025 at 5:15 PM
Microcephaly, epilepsy & diabetes syndrome (MEDS) is a rare disease
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
Excited to share my first-author publication!
"Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome" was published on @jclinical-invest.bsky.social! #Genetics #Neonataldiabetes #Stemcells
www.jci.org/articles/vie...
"Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome" was published on @jclinical-invest.bsky.social! #Genetics #Neonataldiabetes #Stemcells
www.jci.org/articles/vie...
www.jci.org
September 13, 2025 at 2:27 PM
Excited to share my first-author publication!
"Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome" was published on @jclinical-invest.bsky.social! #Genetics #Neonataldiabetes #Stemcells
www.jci.org/articles/vie...
"Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome" was published on @jclinical-invest.bsky.social! #Genetics #Neonataldiabetes #Stemcells
www.jci.org/articles/vie...