Novel c.554+5C>T Mutation in the DUOXA2 gene Combinated with p.R885Q Mutation in the DUOX2 Gene Causes Congenital Hypothyroidism.

CONCLUSION: The novel splice-site mutation c.554+5C>T in the DUOXA2 gene and the mutation p.R885Q in the DUOX2 gene were identified in the boy with CH. PMID: 26758695 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research