DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD.
J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.
PMID:31805011
Overview of thyroid physiology: an essential for understanding familial euthyroid multinodular goiter.
Martinez JH, Palermo C, González FF, Laboy I.
Bol Asoc Med P R. 2013;105(2):68-71.
PMID:23882995
Nodule-Specific NRF2-Targeted Upregulation in Patients With KEAP1 Mutations and Familial Nontoxic Multinodular Goiter.
Nishihara E, Fukata S, Hirokawa M, Higuchi M, Ito M, Nishikawa M, Miyauchi A, Matsuse M, Mitsutake N, Ito Y, Hishinuma A, Kogai T, Akamizu T.
J Clin Endocrinol Metab. 2025 Mar 17;110(4):973-982. doi: 10.1210/clinem/dgae699.
PMID:39373520
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.
Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P, Sun S, Stoffer SS, Goldgar DE, Romeo G, Houlston RS, Narod SA, Stratton MR, Foulkes WD.
Am J Hum Genet. 1997 Nov;61(5):1123-30. doi: 10.1086/301610.
PMID:9345104
The neoplastic goitre.
Nixon IJ, Simo R.
Curr Opin Otolaryngol Head Neck Surg. 2013 Apr;21(2):143-9. doi: 10.1097/MOO.0b013e32835cec37.