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  2. Acromesomelic dysplasia, Maroteaux type

Acromesomelic dysplasia, Maroteaux type

Definition:

Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.

Biomedical Dictionary

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