paediatrics
paediatrics

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genet Med. 2024 Sep 20:101278. doi: 10.1016/j.gim.2024.101278. Online ahead of print. ABSTRACT PURPOSE: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in …

Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter

Genet Med. 2024 Sep 21:101279. doi: 10.1016/j.gim.2024.101279. Online ahead of print. ABSTRACT OBJECTIVE: Investigating associations between group-based medical mistrust (GBMM) and perceptions of patient-provider encounters …

Medico-Legal Complaints Against Dermatologists: Data From the Canadian Medical Protective Association, 2013 to 2022

J Cutan Med Surg. 2024 Sep 24:12034754241275989. doi: 10.1177/12034754241275989. Online ahead of print. ABSTRACT BACKGROUND: Medico-legal complaints against physicians are a significant source of anxiety …

Management of Nasal Polyposis in Pediatric Patients With Cornelia de Lange Syndrome: A Case Series and Literature Review

Ear Nose Throat J. 2024 Sep 24:1455613241284153. doi: 10.1177/01455613241284153. Online ahead of print. ABSTRACT Cornelia de Lange syndrome (CdLS) is a rare genetic multiple malformation …