An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Author:

Chin Hui‐Lin12ORCID,Huynh Stephanie1,Ashkani Jahanshah3,Castaldo Michael4,Dixon Katherine3,Selby Kathryn5,Shen Yaoqing3,Wright Marie6,Boerkoel Cornelius F.1ORCID,Hendson Glenda7,Jones Steven J. M.13

Affiliation:

1. Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia Vancouver British Columbia Canada

2. Khoo Teck Puat‐National University Children's Medical Institute National University Hospital Singapore Singapore

3. Canada's Michael Smith Genome Sciences Centre, BC Cancer Vancouver British Columbia Canada

4. Division of Neonatology, Department of Pediatrics University of British Columbia and Women's Hospital of British Columbia Vancouver British Columbia Canada

5. Division of Neurology, Department of Pediatrics University of British Columbia and Children's Hospital of British Columbia Vancouver British Columbia Canada

6. Division of Respirology, Department of Pediatrics University of British Columbia and Children's Hospital of British Columbia Vancouver British Columbia Canada

7. Department of Pathology, BC Children's Hospital BC Women's Hospital and Health Centre Vancouver British Columbia Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Diaphragmatic dysfunction in SEPN1‐related myopathy;Caggiano S.;Neuromuscular Disorders,2017

2. Diaphragmatic paralysis in children: A review of 11 cases;Commare M. C.;Pediatric Pulmonology,1994

3. An HMM model for coiled‐coil domains and a comparison with PSSM‐based predictions;Delorenzi M.;Bioinformatics (Oxford, England),2002

4. Non‐invasive ventilation in children with neuromuscular disease;Fauroux B.;Frontiers in Pediatrics,2020

5. Clinical spectrum of BICD2 mutations;Frasquet M.;European Journal of Neurology,2020

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