Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
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DOI: 10.1111/cge.14277
Abstract: Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD.… read more here.
Keywords: natural history; two brothers; short stature; prkg2 ... See more keywords