Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.

Rossana Sanchez RussoMichael J GambelloMelissa M MurphyKatrina AberizkEmily BlackT Lindsey BurrellGrace CarlockJoseph F CubellsMichael T EpsteinRoberto EspanaKatrina GoinesRyan M GuestCheryl KlaimanSookyong KohElizabeth J LeslieLongchuan LiDerek M NovacekCeline A SaulnierEsra SefikSarah ShultzElaine WalkerStormi Pulver Whitenull nullJennifer Gladys Mulle

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.

Keyphrases

palliative care
healthcare
end stage renal disease
ejection fraction
newly diagnosed
quality improvement
case report
primary care
clinical practice
peritoneal dialysis
high throughput
risk factors
single cell