PMC3248606_01
(a) Pedigree of the Brazilian family with NDI; the proband is indicated by an arrow. An open square with an inset (N) indicates that the individual was unaffected. (b) c.491T>C polymorphism; (c and e) heterozygosis at c.601C>T (H201Y) of the proband and her mother; and (d and f) heterozygosis at c.697C>G (G211R) of the proband and her father.
cln-67-01-79-g001.jpg
PMC3248606_01_cln-67-01-79-g001.jpg
f1-cln_67p79
The patient was a postfertilization baby for whom the female sex had been chosen, and her older brother had hemophilia. The family pedigree is shown in Figure 1a.