Chong Kun Cheon Gu Hwan Kim Han Wook Yoo
10.3349/ymj.2015.56.1.300
Yonsei Med J
2015 Jan;56(1):300-3.
gata3 gene hdr syndrome hypoparathyroidism
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/25510779/
Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Hypoparathyroidism / genetics Hypoparathyroidism / pathology Nephrosis / genetics Nephrosis / pathology
Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Hypoparathyroidism / genetics Hypoparathyroidism / pathology Nephrosis / genetics Nephrosis / pathology Case Reports Research Support, Non-U.S. Gov't Base Sequence DNA Mutational Analysis GATA3 Transcription Factor / genetics Heterozygote Humans Infant, Newborn Kidney / abnormalities Kidney / diagnostic imaging Male Molecular Sequence Data Reproducibility of Results Republic of Korea Sequence Deletion Ultrasonography GATA3 Transcription Factor GATA3 protein, human Barakat syndrome
PMC4276771
25510779
The first Korean case of HDR syndrome confirmed by clinical and molecular investigation
2015