Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.
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| Title: | Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family. |
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| Authors: | Liaqat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Treat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Mantcheva L; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., McLaughlin A; Indiana University School of Medicine, Indianapolis, Indiana, USA., Breman A; Indiana University School of Medicine, Indianapolis, Indiana, USA., McPheron M; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Conboy E; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA. |
| Source: | Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 109-111. Date of Electronic Publication: 2025 Mar 28. |
| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14741 |
