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Table 2 Comparison of clinical features of all patients having biallelic FLNB variants

From: Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

Study Variant Gender (Ma:F) Short stature Short neck Carpal fusion Scoliosis Facial deformities Tarsal fusion Hearing deficit Lordosis Enamel hypoplasia
(Krakow et al., 2004) [9] c.1945C > T
c.2452C > T
c.4819C > T
c.6408delC
c.7029 T > G
5:6 11/11 9/11 11/11 11/11 11/11 7/11 7/11 NR 7/11
(Farrington-Rock et al., 2007) [10] c.4671G > A
c.5548G > T
2:0 2/2 2/2 NR 2/2 NR NR NR NR NR
(Mitter et al., 2008) [11] c.6010C > T 1:0 1/1 1/1 1/1 1/1 1/1 NR 1/1 0/1 NR
(Yang et al., 2017) [1] c.7621dupG 0:2 2/2 2/2 2/2 2/2 0/2 0/2 1/2 2/2 0/2
(Salian et al., 2018) [3] c.28G > T
c.429delinsCT
c.1204delG
c.1243C > T
c.1493delA
c.1592dup
c.6317delC
6:4 10/10 6/10 9/10 9/10 3/10 3/10 2/10 2/10 NR
Present study c.2911dupG 3:2 5/5 5/5 4/5 3/5 3/5 3/5 1/5 3/5 0/5
Summary of features All nonsense or frameshift variants 17:14 100% 93% 90% 90% 54% 41% 38% 22% 22%
  1. NR Not reported