Clinical manifestations of chromosome 19p13.11 duplication

Journal of Medical Genetics · Published 2026-01-16 · DOI 10.1136/jmg-2025-111154

Authors being retrieved — see the publisher record. https://doi.org/10.1136/jmg-2025-111154

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2026

Related articles

• Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy · Journal of Medical Genetics · 2026 · Same journal
• PRS-BC 313 integration for tailored breast cancer prevention in female patients and their healthy relatives · Journal of Medical Genetics · 2026 · Same journal
• Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants · Journal of Medical Genetics · 2026 · Same journal
• Interpreting TP53 variants: somatic mosaicism and ERCC6L2 -driven clonal evolution · Journal of Medical Genetics · 2026 · Same journal
• Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages · Journal of Medical Genetics · 2026 · Same journal
• Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome · Journal of Medical Genetics · 2026 · Same journal
• The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition · Journal of Medical Genetics · 2026 · Same journal
• ACAN -related disorder, antenatal presentation and phenotypic variability: a case series · Journal of Medical Genetics · 2026 · Same journal
• Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome · Journal of Medical Genetics · 2026 · Same journal
• Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study · Journal of Medical Genetics · 2026 · Same journal