Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.].
J Pediatr Ophthalmol Strabismus 2020 Jan 24
PMID:Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 3197 33