Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
- Resource Type
- Journal
- Authors
- Cangul, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Iwayama, Hideyuki; Serra, Eva G.; Saglam, Halil; Eren, Erdal; Tarim, Omer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia
- Source
- JCI INSIGHT; OCT 18 2018, 3 20, pe99631 10p.
- Subject
- Language
- English
- ISSN
- 23793708