Retinadysplasie/Okulo-Skeletale-Dysplasie (OSD) – Samojede-Typ

Akronym:	OSD, RD
Gene:	COL9A2
Mutation:	1267bp deletion
Vererbung:	Autosomal recessive
Sample type:	CHS (Cheek Swab), WBE (Whole Blood EDTA)
Methode:	End-point PCR with agarose gel electrophoresis