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pro vyhledávání: '"David Süßmuth"'
Autor:
David Süßmuth, Ellen Knierim, Claudia Castiglioni, Enrico Bertini, Laurie D. Smith, Omid Aryani, Markus Buelow, Werner Stenzel, Markus Schuelke
Publikováno v:
European Journal of Human Genetics
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daba716165f373b95e04ccab6fc9f715
http://europepmc.org/articles/PMC8298470
http://europepmc.org/articles/PMC8298470
