Waardenburg anoftalmi sendromu
Kalıtsal - AD/AR
Waardenburg nöral krest sendromu fenotipi
Gelişme geriliği
Alın belirgin
Anoftalmi
Burun kısa ve düz
Kulaklar arkada/aşağıda
Belirgin filtrum
Retrognati
Çukur damak
Yarık dudak
Yarık damak
Kalça çıkığı
İskelet sistemi anomalileri
Zeka geriliği
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Saylı, BS, Akarsu AN, Altan S. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. American Journal of Medical Genetics, 58: 18-20, 1995
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Suyugül Z, Seven M, Hacihanefioglu S, et al. Anophthalmia-Waardenburg syndrome: a report of three cases. American Journal of Medical Genetics, 62: 391-397, 1996
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Tekin M, Tutar E, Arsan S, et al. Ophthalmo-acromelic syndrome: report and review. American Journal of Medical Genetics, 90: 150-154, 2000
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Cogulu O, Özkınay F, Gündüz C, et al. Waardenburg anophthalmia syndrome: report and review. (Letter) American Journal of Medical Genetics, 90: 173-174, 2000
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Okada I, Hamanoue H, Terada K, et al. SMOC1 is essential for ocular and limb development in humans and mice. American Journal of Human Genetics, 88: 30-41, 2011