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Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

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Title: Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
Authors: Mitrakos A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Kekou K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Papadimas G; 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63826. Date of Electronic Publication: 2024 Jul 22.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
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  Data: <searchLink fieldCode="AU" term="%22Mitrakos+A%22">Mitrakos A</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kekou+K%22">Kekou K</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Svingou+M%22">Svingou M</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papadimas+G%22">Papadimas G</searchLink>; 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tzetis+M%22">Tzetis M</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63826. <i>Date of Electronic Publication: </i>2024 Jul 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.63826
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        Text: English
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              Text: 2024 Dec
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              Y: 2024
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