Congenital nystagmus and central hypothyroidism
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Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1186/s13633-015-0003-5.pdf
Reference3 articles.
1. Schulman JD, Crawford JD. Congenital nystagmus and hypothyroidism. NEJM. 1969;280:708–10.
2. Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006;38:1242–4.
3. Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 2012;44:1375–81.
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