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Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

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Description scientific article published on 03 February 2020
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author: Anna Wawrocka  Joanna Walczak-Sztulpa  Maciej Krawczyński  Ewelina Bukowska-Olech  Aleksander Jamsheer 

Publication date February 3, 2020
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