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Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
Clin Endocrinol (Oxf). 2010 May;72(5):716-8. doi: 10.1111/j.1365-2265.2009.03702.x.
Clin Endocrinol (Oxf). 2010.
PMID: 20447071
No abstract available.
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
Citterio CE, Rossetti LC, Souchon PF, Morales C, Thouvard-Viprey M, Salmon-Musial AS, Mauran PL, Doco-Fenzy M, González-Sarmiento R, Rivolta CM, De Brasi CD, Targovnik HM.
Citterio CE, et al. Among authors: mauran pl.
Mol Cell Endocrinol. 2013 Dec 5;381(1-2):220-9. doi: 10.1016/j.mce.2013.07.034. Epub 2013 Aug 7.
Mol Cell Endocrinol. 2013.
PMID: 23933148
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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.
Callewaert BL, et al.
Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623.
Hum Mutat. 2008.
PMID: 17935213
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