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Paper Details

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Am J Med Genet A
2
2022
A, BICD2, BICD2-related disease, Glu515, Glu515Lys, NM_001003800, SMALED2A, SMALED2B, appendicular, arthrogryposis, autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B, coiled, complex BICD2, congenital diaphragmatic paralysis, congenital respiratory insufficiency, constitutive, contractures of large joints, diaphragmatic paralysis, disorder of limb weakness and contractures, infant, muscle weakness, myopathy, patients, proximal or distal limb weakness, respiratory insufficiency, single finger camptodactyly
Author NameAffiliation
Hui-Lin ChinUniversity of British Columbia and Women's Hospital of British Columbia
Hui-Lin ChinKhoo Teck Puat-National University Children's Medical Institute, National University Hospital
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
Steven J M JonesUniversity of British Columbia and Women's Hospital of British Columbia
Steven J M Jones
Steven J M JonesUniversity of British Columbia and Women's Hospital of British Columbia
Steven J M Jones
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Release 1.2