Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

by Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Published 2021-03-01

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

by Allan Bayat, Allan Bayat, Manuela Pendziwiat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Rikke S. Møller, Guido Rubboli, Guido Rubboli
Published 2021-05-01