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First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.

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Title: First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.
Authors: Chan JCK; Department of Clinical Genetics, Hong Kong Children's Hospital., Wong TCH; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Mo CY; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Fung STH; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Cheng THT; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong S.A.R., Cheng SSW; Department of Clinical Genetics, Hong Kong Children's Hospital., Luk HM; Department of Clinical Genetics, Hong Kong Children's Hospital.
Source: Clinical dysmorphology [Clin Dysmorphol] 2025 Oct 01; Vol. 34 (4), pp. 122-125. Date of Electronic Publication: 2025 Jul 15.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.
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  Data: <searchLink fieldCode="AU" term="%22Chan+JCK%22">Chan JCK</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital.<br /><searchLink fieldCode="AU" term="%22Wong+TCH%22">Wong TCH</searchLink>; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital.<br /><searchLink fieldCode="AU" term="%22Mo+CY%22">Mo CY</searchLink>; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital.<br /><searchLink fieldCode="AU" term="%22Fung+STH%22">Fung STH</searchLink>; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital.<br /><searchLink fieldCode="AU" term="%22Cheng+THT%22">Cheng THT</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong S.A.R.<br /><searchLink fieldCode="AU" term="%22Cheng+SSW%22">Cheng SSW</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital.<br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital.
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  Data: <searchLink fieldCode="JN" term="%229207893%22">Clinical dysmorphology</searchLink> [Clin Dysmorphol] 2025 Oct 01; Vol. 34 (4), pp. 122-125. <i>Date of Electronic Publication: </i>2025 Jul 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9207893 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-5717 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209628827%22">09628827 </searchLink><i>NLM ISO Abbreviation: </i>Clin Dysmorphol <i>Subsets: </i>MEDLINE; In Process
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      – Type: doi
        Value: 10.1097/MCD.0000000000000537
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      – Code: eng
        Text: English
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        StartPage: 122
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      – TitleFull: First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.
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            NameFull: Chan JCK
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            NameFull: Wong TCH
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            NameFull: Mo CY
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            NameFull: Fung STH
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            NameFull: Cheng SSW
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            – D: 01
              M: 10
              Text: 2025 Oct 01
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              Y: 2025
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              Value: 1473-5717
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              Value: 34
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              Value: 4
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            – TitleFull: Clinical dysmorphology
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