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GAPO sendromu

Kalıtsal - AR

Gelişme geriliği

Alın bombesi yüksek

Progressif alopesi

Optik atrofi

Glokom

Nistagmus

Garip yüz yapısı

Dudaklar kalın

Mikrognati

Diş sürmelerinde aksamalar

Maloklüzyon

Umblikal herni

Meme ve meme uçları hipoplazisi

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  • Bacon W, Hall RK, Roset JP, et al. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. Journal of Craniofacial Genetics & Developmental Biology, 19(4):189-200, 1999

  • Rim PH, Marques-de-Faria AP. Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genetics, 26(3):143-147, 2005

  • Goloni-Bertollo EM, Ruiz MT, Goloni CB, et al. GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. American Journal of Medical Genetics, 146A(12):1523-1529, 2008

  • Nanda A, Al-Ateeqi WA, Al-Khawari MA, et al. GAPO syndrome: a report of two siblings and a review of literature. Pediatric Dermatology, 27(2):156-161, 2010

  • Bayram Y, Pehlivan D, Karaca E, et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. American Journal of Medical Genetics, 164A(9):2328-2334, 2014

 

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