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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.
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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  Data: Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
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  Data: <searchLink fieldCode="AU" term="%22Funato+M%22">Funato M</searchLink>; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Uehara+T%22">Uehara T</searchLink>; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Okada+Y%22">Okada Y</searchLink>; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Kaneko+H%22">Kaneko H</searchLink>; Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Kosaki+K%22">Kosaki K</searchLink>; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
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  Data: <searchLink fieldCode="JN" term="%229306292%22">Congenital anomalies</searchLink> [Congenit Anom (Kyoto)] 2022 Mar; Vol. 62 (2), pp. 82-83. <i>Date of Electronic Publication: </i>2021 Dec 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley+on+behalf+of+the+Japanese+Teratology+Society%22">Wiley on behalf of the Japanese Teratology Society </searchLink><i>Country of Publication: </i>Australia <i>NLM ID: </i>9306292 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1741-4520 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209143505%22">09143505 </searchLink><i>NLM ISO Abbreviation: </i>Congenit Anom (Kyoto) <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cga.12454
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      – Code: eng
        Text: English
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      – TitleFull: Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
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              Text: 2022 Mar
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