Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family
Titel:
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family
Auteur:
Draaken, Markus Giesen, Carmen A. Kesselheim, Anne L. Jabs, Ronald Aretz, Stefan Kugaudo, Monika Chrzanowska, Krystyna H. Krajewska-Walasek, Malgorzata Ludwig, Michael