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Article

From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.

American journal of medical genetics. Part A - 1 Aug 2021

Mutlu Albayrak Hatice, Elçioğlu Nursel H, Yeter Burcu, Karaer Kadri

Abstract excerpt

Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to evaluate the detailed clinical and dysmorphic features of seven WARBM1 patients and overview the variant spectrum of RAB3GAP1 in comparison with the literature who were...

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PMID: 33951304
DOI: 10.1002/ajmg.a.62234

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