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pro vyhledávání: '"Meaghan Martin"'
Autor:
Val V. Zvereff, Amy Pizzino, Meaghan Martin, Jessica E. King, Amy Dexter, Adeline Vanderver, Inder K. Gadi, Miriam Bloom, Johanna L. Schmidt
Publikováno v:
Journal of genetic counseling. 23(5)
Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bfe60fca90688f9c1ef61325b18e93
https://pubmed.ncbi.nlm.nih.gov/24777551
https://pubmed.ncbi.nlm.nih.gov/24777551
