A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

مواد مشابهة

• Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
  بواسطة: Ilyas, Muhammad, وآخرون
  منشور في: (2020)
• A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis
  بواسطة: Rafiq, Muhammad Arshad, وآخرون
  منشور في: (2004)
• A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
  بواسطة: Lee, Kwanghyuk, وآخرون
  منشور في: (2011)
• Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
  بواسطة: Law, Rosalind, وآخرون
  منشور في: (2014)
• Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment
  بواسطة: Lee, Kwanghyuk, وآخرون
  منشور في: (2011)