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Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Autor: Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Keigwin S; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Anttonen AK; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Baker D; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Bean K; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Jakkula E; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.; Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland.

Publikováno v: Clinical case reports [Clin Case Rep] 2022 Oct 11; Vol. 10 (10), pp. e6455. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022).