Article
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
European journal of medical genetics - 1 Nov 2017
Jamshidi Javad, Abdollahi Shokoufeh, Ghaedi Hamid, Alehabib Elham, Tafakhori Abbas, Alinaghi Somayeh, Chapi Marjan, Johari Amir Hossein, Darvish Hossein
Abstract excerpt
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss...
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