Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
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| Title: | Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant. |
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| Authors: | Funato M; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan., Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Okada Y; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan., Kaneko H; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. |
| Source: | Congenital anomalies [Congenit Anom (Kyoto)] 2022 Mar; Vol. 62 (2), pp. 82-83. Date of Electronic Publication: 2021 Dec 30. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1741-4520 |
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| DOI: | 10.1111/cga.12454 |
