Zobrazeno 1 - 2
of 2
pro vyhledávání: '"pathology [Retinal Dystrophies]"'
Autor:
Christina Gerth-Kahlert, Dominik Straumann, Matthis Synofzik, Peter Bauer, Florian Harmuth, Dagmar Timmann, Alexander A. Tarnutzer, D. I. Chang
Publikováno v:
Journal of neurology 262(1), 194-202 (2014). doi:10.1007/s00415-014-7555-9
The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc00c27e696e2ed69210c640d757a99
https://www.ncbi.nlm.nih.gov/pubmed/25359264
https://www.ncbi.nlm.nih.gov/pubmed/25359264
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry 86(5), 580-581 (2014). doi:10.1136/jnnp-2014-307793
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a787445c89c2068c45153a3ad28a397d
https://pubmed.ncbi.nlm.nih.gov/24790214
https://pubmed.ncbi.nlm.nih.gov/24790214
