ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

@article{Ramzan2014ILDR1NM,
  title={ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.},
  author={Khushnooda Ramzan and Khalid Taibah and Asma I Tahir and Nada Al-Tassan and Amal Berhan and Ahmed M Khater and Selwa A. F. Al-Hazzaa and Mohammed A. Al-Owain and Faiqa Imtiaz},
  journal={European journal of medical genetics},
  year={2014},
  volume={57 6},
  pages={253-8}
}
Hearing impairment is the common human sensorineural disorder and is a genetically heterogeneous phenotype for which more than 100 genomic loci have been mapped so far. ILDR1 located on chromosome 3q13.33, encodes a putative transmembrane receptor containing an immunoglobulin-like domain. We used a combination of autozygosity mapping and candidate gene sequencing to identify a novel mutation in ILDR1, as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a… CONTINUE READING
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