Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

UK10K Consortium, Hakan Cangul, Xiao Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva G. Serra, Halil Saglam, Erdal Eren, Omer Tarim, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E.Karet Frankl, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad PatyraChristoffer Löf, E. Dillwyn Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, V. Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

Research output: Contribution to journal › Article › peer-review

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Keyphrases

Biochemistry, Genetics and Molecular Biology