Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

Podobne zapisy

• Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
  od: Khurram Liaqat, i wsp.
  Wydane: (2022-04-01)
• Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
  od: Liaqat, Khurram, i wsp.
  Wydane: (2018)
• A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
  od: Ansar, Muhammad, i wsp.
  Wydane: (2011)
• Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
  od: Liaqat, Khurram, i wsp.
  Wydane: (2019)
• Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3
  od: Ali, Ghazanfar, i wsp.
  Wydane: (2011)