Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium; Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N.
Cangul H, et al. Among authors: iwayama h.
JCI Insight. 2018 Oct 18;3(20):e99631. doi: 10.1172/jci.insight.99631.
JCI Insight. 2018.
PMID: 30333321
Free PMC article.