P707: Optic genome mapping reveals complex 22q13 rearrangements in SHANK3-unrelated Phelan-McDermid syndrome

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Mehmet Akif Yücesoy, Mehmet Burak Mutlu, Güven Toksoy, Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman
DOI: 10.1016/j.gimo.2026.104197
Cited by: 0

Abstract

Management has been multidisciplinary, including antiepileptic therapy with carbamazepine, physiotherapy four times weekly, and early developmental interventions. The case is under regular nephrology follow-up for VUR and pelviectasis (on prophylactic trimethoprim/sulfamethoxazole) and orthopedic care for pes planus.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104197–104197
Publication date
1 January 2026
Language
EN