Journals / Cukurova Medical Journal / 2020 / Cilt: 45 - Sayı: 1

A newborn case diagnosed as ısolated TBX1 deletion with 22q11 deletion syndrome

İzole TB delesyonu saptanan 22q11 delesyon sendromlu bir yenidoğan olgusu

Pages
385–387
Publication Date
2020-03-31
DOI
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TURAN, Ö., ÇELİK, Z. Y., INCE, D. A., TERZİ, Y. K., ECEVİT, A. (2020). A newborn case diagnosed as ısolated TBX1 deletion with 22q11 deletion syndrome. Cukurova Medical Journal, Cilt: 45 - Sayı: 1, 385–387. https://ajindex.com/articles/114461

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References (5)

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  2. Cabuk F, Karabulut HG, Tuncali T, Karademir S, Bozdayı M, Tükün A. TBX1 Gene mutation screening in patients with non-syndromic Fallot tetralogy. Turk J Pediatr. 2007;49:61-8
  3. Choi M, Klingensmith J. Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLos Genet. 2009;5: e1000395
  4. Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Hum Mol Genet. 2015;15:424-35
  5. Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet. 2015;18:123-32.