A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
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| Title: | A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. |
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| Authors: | Dinçer T; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Gümüş E; Department of Medical Genetics, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey., Toraman B; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Er İ; Department of Medical Biology, Institute of Health Science, Karadeniz Technical University, Trabzon, Turkey., Yildiz G; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Yüksel Z; Department of Human Genetics, Bioscientia GmbH, Ingelheim, Germany., Kalay E; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1691-1699. Date of Electronic Publication: 2021 Mar 13. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| 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 |
| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62154 |
