G

 

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

  • 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