P416: A 10-year-old male with four genetic diagnoses and a complex multisystem presentation

Genetics in Medicine Open 2026 Open access

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Authors: Paige Black, Mahnoosh Rahimi, Erica Smith, Wendy A. Alcaraz, Rossana Sanchez
DOI: 10.1016/j.gimo.2026.103910
Cited by: 0

Abstract

Clinical management is complicated by multiple diagnoses. Reviewing each condition individually helped guide treatment decisions but required accommodation for the unique phenotype resulting from multilocus genetic contributions.

Fields of Study & Subjects

Genomics and Rare Diseases Connective tissue disorders research Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103910–103910
Publication date
1 January 2026
Language
EN