ns Identi¢ed in the ROR2 Gene in PatientsWith Recessive Robinow Syndrome and BrachydactylyType B1




Origin/no. of families DNA Exon Protein Phenotype Reference




Turkey 545G>A 5 C182Y RRS 4nn




Brazil 550C>T 5 R184C RRS 2




Pakistann 565C>T 5 R189W RRS 2




TurkeyX3 613C>T 5 R205X RRS 4




Pakistann 1096C>T 7 R366W RRS 2




Turkey 1189C>T 8 R397X RRS 4nn




Turkey 1321_1325del 8 R441fsX15w BDB1; RRS 3




Germany IVS8+3_5delins19 Splice donor site of




intron 8




A463fsX64w BDB1 3




GermanyX2 1398_1399insA 9 Q467fsX57w BDB1 3




Oman 1504C>T 9 Q502X RRS 2




Pakistan 1740_1774del 9 D580fsX124w RRS 4




Turkey 1860T>A 9 N620K RRS 2




Turkey 2160G>A 9 W720X RRS 4




Germany 2246G>A 9 W749X BDB1 1




Portugal 2249delG 9 G750fsX23 BDB1 1




EnglandX3 2265C>A 9 Y755X BDB1 1




Germany 2278C>T 9 Q760X BDB1 3




Polymorphisms 498T>C 5 ^ 3




< href="error.html">733G>A 6 A245T 3




2088C>T 9 ^ 1




2154C>T 9 ^ 3




2455G>A 9 V819I 1




2848G>A




3004_3007del





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