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TL;DR
The study achieved a genetic diagnosis in 10% of families, identifying a de novo pathogenic variant in AQP5 (c.152T>C) in one family and a de novo 661.2 Kb deletion at 2q37.3 in another.
International Journal of Molecular Sciences · 19 authors, 6 centres
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The study achieved a genetic diagnosis in 10% of families, identifying a de novo pathogenic variant in AQP5 (c.152T>C) in one family and a de novo 661.2 Kb deletion at 2q37.3 in another.
The study achieved a genetic diagnosis in 10% of families, identifying a de novo pathogenic variant in AQP5 (c.152T>C) in one family and a de novo 661.2 Kb deletion at 2q37.3 in another. Approximately 55% of families received inconclusive results.