Associated Papers
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.
Dawood M et al.
Journal of Human Genetics, 2025
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.
Jamali F et al.
Archives of Iranian Medicine, 2019
Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G et al.
European Journal of Medical Genetics, 2019
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
Jamshidi J et al.
European Journal of Medical Genetics, 2017
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