Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
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| Title: | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay. |
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| Authors: | Napier MP; GeneDx LLC, Gaithersburg, MD 20877, USA. Electronic address: mnapier@genedx.com., Ryan E; GeneDx LLC, Gaithersburg, MD 20877, USA., Reich A; GeneDx LLC, Gaithersburg, MD 20877, USA., Suhl JA; GeneDx LLC, Gaithersburg, MD 20877, USA., Masser-Frye D; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA., Jones M; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA., Beaudreau C; Children's Hospital of Georgia, Department of Pediatrics, Augusta, GA 30912, USA., Robin N; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA., Goodloe D; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA., Folk L; GeneDx LLC, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx LLC, Gaithersburg, MD 20877, USA., Carere DA; GeneDx LLC, Gaithersburg, MD 20877, USA. |
| Source: | HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100408. Date of Electronic Publication: 2025 Jan 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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