Table 2 Familial co-segregation analysis of the proband
Gene(s) | Filtering model | Location of alteration | Alteration | Proband | Mother | Father |
|---|---|---|---|---|---|---|
CYP27B1 | Autosomal recessive | 12q13.1-q13.3 | c.1510C > T(p.Q504X) | Homozygous | Heterozygous | Heterozygous |
Gene(s) | Filtering model | Location of alteration | Alteration | Proband | Mother | Father |
|---|---|---|---|---|---|---|
CYP27B1 | Autosomal recessive | 12q13.1-q13.3 | c.1510C > T(p.Q504X) | Homozygous | Heterozygous | Heterozygous |