PMC7744220_01
Pedigrees of the patients diagnosed with AT following whole-exome sequencing.
CRIG2020-6630300.001.jpg
PMC7744220_01_CRIG2020-6630300.001.jpg
fig1
Case 1 was a 6-year-old girl representing one of the two affected siblings of a nonconsanguineous marriage (Figure 1(a)). Case 2 was a 9-year-old girl born to consanguineous parents (Figure 1(b)). Case 3 was a 7-year-old boy born at term to nonconsanguineous parents following a normal uneventful pregnancy (Figure 1(c)). His MRI brain is normal and his parents and sibling (sister) are unaffected (Figure 1(d)).