Article
Interstitial lung disease in children with Rubinstein-Taybi syndrome.
Pediatric pulmonology - 1 Jan 2022
Bradford Lauren, Ross Mindy K, Minso Jagila, Cernelc-Kohan Mateja, Shayan Katayoon, Wong Simon S, Li Xiaoping, Rivier Lauraine, Jegga Anil G, Deutsch Gail H, Vece Timothy J, Loughlin Ceila E, Gower William A, Hurley Caitlin, Furman Wayne, Stokes Dennis, Hagood James S
Abstract excerpt
INTRODUCTION: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome caused primarily by a mutation in the CREBBP gene found on chromosome 16. Patients with RSTS are at greater risk for a variety of medical problems, including upper airway obstruction and aspiration. Childhood interstitial lung disease (ILD) thus far has not been definitively linked to RSTS. Here we present three patients with RSTS who...
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