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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

    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 by Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula

    Published 2022-10-01
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