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Cause of achondrogenesis type 1A

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Achondrogenesis type 1A is a rare, rapidly lethal, autosomal recessive, skeletal dysplasia characterised by very short limbs; short, easily fractured ribs and a narrow chest; soft skull bones and poor ossification of the spine and pelvis. (Achondrogenesis types 1B and 2 are also recognised and …

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  • Provenance and peer review Not commissioned; internally peer reviewed.