A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability

Lignende værker

• Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
  af: Muthusamy, Babylakshmi, et al.
  Udgivet: (2021)
• KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature
  af: Kumar, Kishore, et al.
  Udgivet: (2020)
• A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
  af: Sineni, Claire J., et al.
  Udgivet: (2019)
• Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
  af: Law, Rosalind, et al.
  Udgivet: (2014)
• Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
  af: El Chehadeh, S., et al.
  Udgivet: (2015)