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Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene ( ) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision. We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14months. Both were genetically studied to find the cause of their developmental delay and microcephaly. The identical compound heterozygous missense mutations in the gene were found in each. Ophtha
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