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  • A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties
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