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)

 

• 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

• 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

• 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

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