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Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

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Title: Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Authors: Marinakis NM; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kampouraki A; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Vasilopoulou M; B' Pediatric Clinic, Agia Sofia Children's Hospital, Athens, Greece., Dokou A; B' Pediatric Clinic, Agia Sofia Children's Hospital, Athens, Greece., Georgiadou E; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece., Karavergou E; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece., Christolouka M; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece., Alexopoulos A; Special Unit of Dermatology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital, Athens, Greece., Kirillidi D; Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics, University of Thessaly, University General Hospital of Larissa, Larissa, Greece., Goudesidou M; Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics, University of Thessaly, University General Hospital of Larissa, Larissa, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Makrythanasis P; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.
Source: Clinical genetics [Clin Genet] 2026 Jan; Vol. 109 (1), pp. 176-180. Date of Electronic Publication: 2025 Jun 23.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kampouraki+A%22">Kampouraki A</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Veltra+D%22">Veltra D</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vasilopoulou+M%22">Vasilopoulou M</searchLink>; B' Pediatric Clinic, Agia Sofia Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Dokou+A%22">Dokou A</searchLink>; B' Pediatric Clinic, Agia Sofia Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Georgiadou+E%22">Georgiadou E</searchLink>; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Karavergou+E%22">Karavergou E</searchLink>; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Christolouka+M%22">Christolouka M</searchLink>; First Department of Paediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Alexopoulos+A%22">Alexopoulos A</searchLink>; Special Unit of Dermatology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kirillidi+D%22">Kirillidi D</searchLink>; Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics, University of Thessaly, University General Hospital of Larissa, Larissa, Greece.<br /><searchLink fieldCode="AU" term="%22Goudesidou+M%22">Goudesidou M</searchLink>; Neonatal Intensive Care Unit (NICU) of the Department of Pediatrics, University of Thessaly, University General Hospital of Larissa, Larissa, Greece.<br /><searchLink fieldCode="AU" term="%22Kosma+K%22">Kosma K</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Makrythanasis+P%22">Makrythanasis P</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.
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