Acromesomelic dysplasia

Definition:

Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.

References:

[1]. Francisca Díaz-González, et al. Biallelic cGMP-dependent type II protein kinase gene ( PRKG2) variants cause a novel acromesomelic dysplasia. J Med Genet. 2022 Jan;59(1):28-38. [Content Brief]

[2]. Saadullah Khan, et al. Genetics of human isolated acromesomelic dysplasia. Eur J Med Genet. 2016 Apr;59(4):198-203. [Content Brief]

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