Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family

Antzeko izenburuak

• Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
  nork: Jung, Jiwon, et al.
  Argitaratua: (2020)
• Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
  nork: Xu, Pengcheng, et al.
  Argitaratua: (2020)
• Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
  nork: Bergmann, C, et al.
  Argitaratua: (2005)
• Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
  nork: Wu, Xia, et al.
  Argitaratua: (2018)
• Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
  nork: Gao, Xue, et al.
  Argitaratua: (2013)