Biallelic mutations in UGDH cause congenital microcephaly

פריטים דומים

• Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations
  מאת: Liangliang Jiang, et al.
  יצא לאור: (2023-12-01)
• Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
  מאת: Dana Marafi, et al.
  יצא לאור: (2020-05-01)
• Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
  מאת: Aleksandra Siekierska, et al.
  יצא לאור: (2019-02-01)
• Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
  מאת: Xiaoting Lou, et al.
  יצא לאור: (2021-09-01)
• Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
  מאת: Simo Li, et al.
  יצא לאור: (2024-11-01)