Short stature-delayed bone age due to thyroid hormone metabolism deficiency is an autosomal recessive disorder caused by mutations of the SECISBP2 gene.
1. |
Dumitrescu AM et al. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. |
2. |
OMIM.ORG article Omim 609698 |
3. |
Orphanet article Orphanet ID 171706 |