A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

Autor: Anne Griffin, Tammy Benteau, Sumit K. Agrawal, Cindy Penney, Christopher N. Rowley, Courtney MacDonald, Valerie Booth, Lorne S. Parnes, Ahmed A. Mostafa, Susan J Moore, Terry-Lynn Young, Lisbeth Tranebjærg, Tony Batten, Darren D. O’Rielly, Matthew B. Lucas, Curtis R. French, Leichelle A. Little, Nanna Dahl Rendtorff, Jim Houston, Pingzhao Hu, Justin A. Pater, Danielle French, Susan G. Stanton, Dante Galutira, Kathy Hodgkinson, Nelly Abdelfatah, Lance P. Doucette, Jessica E. Besaw

Publikováno v: Abdelfatah, N, Mostafa, A A, French, C R, Doucette, L P, Penney, C, Lucas, M B, Griffin, A, Booth, V, Rowley, C, Besaw, J E, Tranebjærg, L, Rendtorff, N D, Hodgkinson, K A, Little, L A, Agrawal, S, Parnes, L, Batten, T, Moore, S, Hu, P, Pater, J A, Houston, J, Galutira, D, Benteau, T, MacDonald, C, French, D, O’Rielly, D D, Stanton, S G & Young, T L 2022, ' A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene ', Human Genetics, vol. 141, pp. 965–979 . https://doi.org/10.1007/s00439-021-02381-1

Otosclerosis is a bone disorder of the otic capsule and common form of late-onset hearing impairment. Considered a complex disease, little is known about its pathogenesis. Over the past 20 years, ten autosomal dominant loci (OTSC1-10) have been mappe

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https://pubmed.ncbi.nlm.nih.gov/34633540