A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Works matching IS 09185739 AND DT 2016 AND VI 25 AND IP 3
Results: 7
1
2
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
3
A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
4
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
5
Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 3, p. 99
- By:
- Publication type:
- Article
6
Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 3, p. 91, doi. 10.1297/cpe.25.91
- By:
- Publication type:
- Article
7
Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 3, p. 83, doi. 10.1297/cpe.25.83
- By:
- Publication type:
- Article