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

Eitemau Tebyg

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