Research Article
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Table 2
The known PITX3 mutations associated with cataracts (NM_005029.4).
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Note. AD: autosomal dominant inheritance; AR: autosomal recessive inheritance; de novo: newly identified mutation; ADCC: autosomal dominant congenital cataract; ASMD: anterior segment mesenchyme dysplasia; PPC: posterior polar cataract; PSC: posterior subcapsular cataract. |