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Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Am J Med Genet A. 2023 Feb;191(2):554-558. doi: 10.1002/ajmg.a.63023. Epub 2022 Oct 29.
Am J Med Genet A. 2023.
PMID: 36308391
Review.
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Alghaith FA, MacKay S, Wallace K, Locke J, Robitaille JM, Dyack S, Arts HH.
Alghaith FA, et al.
Clin Genet. 2023 Dec;104(6):713-715. doi: 10.1111/cge.14418. Epub 2023 Aug 23.
Clin Genet. 2023.
PMID: 37612261
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