PMC2811305_01
PMC2811305_02
The pedigree of the family. One of the uncles deceased in his third decade without clear cause. Closed black circles indicate the affected persons (proband, sibling, and father). The arrow indicates the proband. Closed gray circle indicates proband's mother without mutation in calcium-sensing receptor (CaSR) gene. The remaining members of the family (open circles) were not included in this study because of inaccessibility.
jkms-25-317-g001.jpg
PMC2811305_02_jkms-25-317-g001.jpg
F1
The mother's laboratory work-up was normal. The remaining members of the family were not included in this study because of inaccessibility (Fig. 1).
Direct sequencing of the calcium-sensing receptor (CaSR) gene.
jkms-25-317-g002.jpg
PMC2811305_02_jkms-25-317-g002.jpg
F2