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Variants in CIB2 cause DFNB48 and not USH1J.

Autor: Booth, K. T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El‐amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H., Smith, R. J.

Publikováno v: Clinical Genetics; Apr2018, Vol. 93 Issue 4, p812-821, 11p, 3 Diagrams, 2 Charts

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Autor: Lebeko K; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Sloan-Heggen CM; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Noubiap JJ; Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Dandara C; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa., Kolbe DL; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Ephraim SS; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Booth KT; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Azaiez H; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Smith RJ; Department of Otolaryngology, Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, USA., Wonkam A; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences University of Cape Town, Cape Town, South Africa.

Publikováno v: Clinical genetics [Clin Genet] 2016 Sep; Vol. 90 (3), pp. 288-90. Date of Electronic Publication: 2016 Jun 01.