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  • Title: Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
    Author: Thieu T, Milman T, Bhatti TR, Eagle RC.
    Journal: J Pediatr Ophthalmol Strabismus; 2020 Jan 24; 57():e8-e11. PubMed ID: 31978233.
    Abstract:
    A 4-month-old male infant with frontometaphyseal dysplasia and de novo FLNA gene mutation died of complications of disease. Post-mortem examination revealed accessory iris membranes. This is the first report in the literature of accessory iris membranes in a confirmed case of FLNA mutation and phenotypic anomalies consistent with frontometaphyseal dysplasia. [J Pediatr Ophthalmol Strabismus. 2020;57:e8-e11.].
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