Table 2S: Bone crises: date and site of events Patient Mutations Year of Long bones crisis (bones in Main weight bearing Other bones (pelvis, bones (in hands birth the limbs excluding the bones (vertebra, clavicle, skull, ribs) and feet) patella) femoral head, calcaneus) 1 N370S/R285C 1982 1996; 1996; 1996 2 N370S/N370S 1965 1982 3 N370S/84GG 1957 1966; 1968; 2011 4 N370S/84GG 1972 1982; 1982; 1982; 1985, 1990; 1994 5 N370S/84GG 1970 1998 6 N370S/84GG 1970 Pre-1993 1993 7 N370S/N370S 1971 1984; 2004 8 N370S/R120W 1956 Many NDD 9 N370S/IVS2+1 1971 2002; 2004 2004; 2005; 2007; 2012 - 10 N370S/84GG 1948 Many NDD 2011; 2012 (NI) 11 N370S/84GG 1977 1995 Pre-2001 (post- 2004 1998) 12 N370S/84GG 1973 1979; 1982; 1984; 1988; 1990; 1982 1998; 1999; 2009; 2009 1991; 1992; 1995; 2009 13 1980 1994; 1994 1996 14 N370S/84GG 1970 1981; 1985; 1990 15 N370S/84GG 1990 1993; 1994; 1995; 2005 2008 16 N370S/84GG 1983 1991; 1992 17 N370S/N370S 1970 1981; 1986; 1990 18 N370S/84GG 1974 1981; 1986; 1990 (NI) 1995; 2004 (NI) 19 N370S/84GG 1975 1984; 1985; 1989 1994; 1995; 1995 20 N370S/84GG 1968 Many (NDD)
Table 2S: Bone crises: date and site of events Patient Mutations Year of birth Long bones crisis (bones in the limbs excluding the patella) Main weight bearing bones (vertebra, femoral head, calcaneus) Other bones (pelvis, clavicle, skull, ribs) bones (in hands and feet) 1 N370S/R285C 1982 1996; 1996; 1996 2 N370S/N370S 1965 1982 3 N370S/84GG 1957 1966; 1968; 2011 4 N370S/84GG 1972 1982; 1982; 1982; 1985, 1990; 1994 5 N370S/84GG 1970 1998 6 N370S/84GG 1970 Pre-1993 1993 7 N370S/N370S 1971 1984; 2004 8 N370S/R120W 1956 Many NDD 9 N370S/IVS2+1 1971 - 2002; 2004 2004; 2005; 2007; 2012 10 N370S/84GG 1948 Many NDD 2011; 2012 (NI) 11 N370S/84GG 1977 1995 Pre-2001 (post- 1998) 2004 12 N370S/84GG 1973 1979; 1982; 1984; 1988; 1990; 1991; 1992; 1995; 2009 1982 1998; 1999; 2009; 2009 13 1980 1994; 1994 1996 14 N370S/84GG 1970 1981; 1985; 1990 15 N370S/84GG 1990 1993; 1994; 1995; 2005 2008 16 N370S/84GG 1983 1991; 1992 17 N370S/N370S 1970 1981; 1986; 1990 18 N370S/84GG 1974 1981; 1986; 1990 (NI) 1995; 2004 (NI) 19 N370S/84GG 1975 1984; 1985; 1989 1994; 1995; 1995 20 N370S/84GG 1968 Many (NDD)
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