Kanako Tanase-Nakao Koji Muroya Masanori Adachi Kiyomi Abe Tomonobu Hasegawa Satoshi Narumi
10.1297/cpe.2022-0030
Clin Pediatr Endocrinol
2022;31(4):250-255.
pax8 congenital hypothyroidism frameshift mutation urogenital abnormality
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36405439/
Case Reports
PMC9637417
36405439
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation
2022