A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.
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| Title: | A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature. |
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| Authors: | Olarewaju BA; School of Science and Engineering, University of Dundee, Nethergate, Dundee, UK., Tejon JB; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA., Abbas MT; Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, Arizona, USA., Shen JF; Department Ophthalmology, Mayo Clinic, Phoenix, Arizona, USA., Turkmani A; Department of Neurological Surgery, Mayo Clinic, Phoenix, Arizona, USA., Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Shen W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Osundiji MA; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64098. Date of Electronic Publication: 2025 Apr 21. |
| Publication Type: | 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; In Process |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.64098 |
