Warning: fopen(/home/virtual/enm-kes/journal/upload/ip_log/ip_log_2024-04.txt): failed to open stream: Permission denied in /home/virtual/lib/view_data.php on line 88 Warning: fwrite() expects parameter 1 to be resource, boolean given in /home/virtual/lib/view_data.php on line 89
1Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.
2Department of Surgery, Gachon University College of Medicine, Incheon, Korea.
3Department of Internal Medicine, Gachon University College of Medicine, Incheon, Korea.
Copyright © 2020 Korean Endocrine Society
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
CONFLICTS OF INTEREST: No potential conflict of interest relevant to this article was reported.
Index case (sex, age) | PTH mutation | Homozygous, heterozygous, or other | Familial | Reference |
---|---|---|---|---|
Male, infant | c.52T>C p.C18R | Heterozygous | Yes | [13] |
Female | c.86+1G>C exon 2 skipped | Homozygous | Yes | [18] |
Female, 7 days old | c.67T>C p.S23P | Homozygous | Yes | [19] |
Female, 59 years old | c.247C>T p.R83X | Somatic; hemizygous | No | [20] |
Female, 4 months old | c.68C>A p.S23X | Homozygous | Yes | [22] |
Female, 18 years old | c.2T>C p.M1_D6del | Heterozygous | No | [24] |
Male, early adolescence | c.166C>T p.R56C | Homozygous | Yes | [25] |
Male, 2 years old | c.41T>A p.M14K | Heterozygous | Yes | [27] |