MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

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Bibliographic Details
Title: MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.
Authors: Gomes A; Department of Pediatrics, University of California, San Diego, California, USA.; Division of Dysmorphology/Genetics, Rady Children's Hospital San Diego, San Diego, California, USA., Martín-Rodríguez Á; Department of Pediatrics, University of California, San Diego, California, USA.; Division of Dysmorphology/Genetics, Rady Children's Hospital San Diego, San Diego, California, USA., Shah NM; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Hong L; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Bird LM; Department of Pediatrics, University of California, San Diego, California, USA.; Division of Dysmorphology/Genetics, Rady Children's Hospital San Diego, San Diego, California, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 178-184. Date of Electronic Publication: 2025 Aug 13.
Publication Type: Case Reports; 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
Database: MEDLINE Ultimate
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