The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.

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Title: The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Authors: Fanis P; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Skordis N; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Division of Paediatric Endocrinology, Paedi Center for specialized Paediatrics, Nicosia, Cyprus.; School of Medicine, University of Nicosia, Nicosia, Cyprus., Toumba M; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Department of Paediatrics, Paediatric Endocrinology Clinic, Aretaeio Hospital, Nicosia, Cyprus., Picolos M; Department of Endocrinology, Alithias Endocrinology Center, Nicosia, Cyprus., Tanteles GA; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Neocleous V; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Phylactou LA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 May 31; Vol. 14, pp. 1156616. Date of Electronic Publication: 2023 May 31 (Print Publication: 2023).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-2392
DOI:10.3389/fendo.2023.1156616