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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63826 |
