Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
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| Title: | Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant. |
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| Authors: | Albarry MA; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia., Latif M; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia., Alreheli AQ; Department of Ophthalmology, College of Medicine, Taibah University, Almadinah, Saudi Arabia., Awadh MA; College of Applied Medical Sciences, Taibah University, Almadinah, Saudi Arabia., Almatrafi AM; Department of Biology, College of Science, Taibah University, Almadinah, Saudi Arabia., Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.; Department of Biology, College of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Basit S; Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia. |
| Source: | PloS one [PLoS One] 2021 Feb 11; Vol. 16 (2), pp. e0246607. Date of Electronic Publication: 2021 Feb 11 (Print Publication: 2021). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1932-6203 |
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| DOI: | 10.1371/journal.pone.0246607 |
