Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Oculodentodigital Dysplasia[original query] |
---|
Hypomyelinating leukodystrophies in adults: Clinical and genetic features. European journal of neurology 2020 11 28 (3): 934-944. Di Bella Daniela, Magri Stefania, Benzoni Chiara, Farina Laura, Maccagnano Carmelo, Sarto Elisa, Moscatelli Marco, Baratta Silvia, Ciano Claudia, Piacentini Sylvie H M J, Draghi Lara, Mauro Elena, Pareyson Davide, Gellera Cinzia, Taroni Franco, Salsano Etto |
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain. Molecular vision 2021 5 27 309-322. Li Xueqing, Xiao Xueshan, Li Shiqiang, Ouyang Jiamin, Sun Wenmin, Liu Xing, Zhang Qingjio |
- Page last reviewed:Feb 1, 2024
- Content source: