Homozygous SALL1 mutation causes lethal Townes-Brocks syndrome, CNS defects and severe retardation

Ижил төстэй зүйлс

• Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
  -н: Vodopiutz, J, зэрэг
  Хэвлэсэн: (2013)
• Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome
  -н: Vodopiutz, J, зэрэг
  Хэвлэсэн: (2013)
• Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome
  -н: Bozal-Basterra, L, зэрэг
  Хэвлэсэн: (2018)
• Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS
  -н: Rong Liang, зэрэг
  Хэвлэсэн: (2025-02-01)
• Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
  -н: Zhendong Wang, зэрэг
  Хэвлэсэн: (2023-08-01)