Associated Papers
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.
Strang-Karlsson S et al.
Clinical Case Reports, 2022
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
Chesneau B et al.
European Journal of Human Genetics : Ejhg, 2021
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