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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

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Title: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Authors: Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. sharmap@nih.gov., McFadden JR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Frost FG; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA., Introne WJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Source: Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1445-1457. Date of Electronic Publication: 2024 Oct 25.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
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  Data: <searchLink fieldCode="AU" term="%22Sharma+P%22">Sharma P</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. sharmap@nih.gov.<br /><searchLink fieldCode="AU" term="%22McFadden+JR%22">McFadden JR</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Frost+FG%22">Frost FG</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Markello+TC%22">Markello TC</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Grange+DK%22">Grange DK</searchLink>; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Introne+WJ%22">Introne WJ</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1445-1457. <i>Date of Electronic Publication: </i>2024 Oct 25.
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  Data: Journal Article; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1007/s00439-024-02708-8
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      – Code: eng
        Text: English
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      – TitleFull: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
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            NameFull: Sharma P
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            NameFull: Gahl WA
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            – D: 01
              M: 12
              Text: 2024 Dec
              Type: published
              Y: 2024
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              Value: 1432-1203
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              Value: 143
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