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Here's what other families have to say:
"We are very happy because we can understand what is the exact problem..." parent of child with congenital glaucoma and mutations in CYP1B1.
"Studies like these are vital to affected children's health and for family planning. Keep up the amazing research." mother of child with Peters' plus syndrome and mutations in B3GALTL.
"Having a confirmed diagnosis has been wonderful, I can say this is what my child has and this is how we can help him." mother of child with syndromic microphthalmia and mutation in SOX2.