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pro vyhledávání: '"Guylaine DʹAmours"'
Autor:
Sophie Ehresmann, Hyunyun Kim, Virginie Saillour, Smrithi Salian, Guylaine DʹAmours, Philippe M. Campeau, Julie Gauthier, Jean-François Soucy, Grant A. Mitchell, Eliane Beauregard-Lacroix, Geneviève Bernard, Jacques L. Michaud
Publikováno v:
Eur J Hum Genet
Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c6517a018873b508509ee5b084b66a
https://doi.org/10.1038/s41431-019-0539-6
https://doi.org/10.1038/s41431-019-0539-6
