TOD sendromu
Terminal Osseous Dysplasia
Kalıtsal
Hipertelorizm
İris koloboması
Düz-basık burun yapısı
Dudaklar kalın
Çok sayıda frenulum
Uzun kemikler
Eklem anomalileri
Parmak anomalileri
Parmaklarda fibromlar
Deride pigmentasyon (çiller)
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Zhang W, Amir R, Stockton DW, et al. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter. American Journal of Human Genetics, 66: 1461-1464, 2000
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Kokitsu-Nakata NM, Antunes LFBB, Guion-Almeida ML. Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. American Journal of Medical Genetics, 146A: 2698-2700, 2008
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Sun Y, Almomani R, Aten E, et al. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics, 87: 146-153, 2010