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Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies
A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that is caused by homozygous or compound heterozygous mutation in the EXOSC2 gene on c
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Overview
A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that is caused by homozygous or compound heterozygous mutation in the EXOSC2 gene on c
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