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Results 1 - 4 of 4 for Tukel syndrome
  1. Congenital fibrosis of the extraocular muscles 
    ... forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye ... brain are smaller and more numerous than usual.Tukel syndrome is characterized by missing fingers (oligodactyly) and other ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  2. PAX3 gene 
    ... 2014 May 25. Citation on PubMed Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15; ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  3. INSR gene 
    ... on PubMed Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. ...
    https://medlineplus.gov/genetics/gene/insr - Genetics
  4. ANTXR2 gene 
    ... PubMed Central Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel- ... Shieh JTC, Hoyme HE, Arbour LT. Hyaline Fibromatosis Syndrome. 2008 Feb 27 [updated 2023 May 11]. In: ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics