Article
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
European journal of human genetics : EJHG - 1 Oct 2024
Akgun-Dogan Ozlem, Díaz-González Francisca, de Lima Jorge Alexander Augusto, Onenli-Mungan Neslihan, Menezes Andrade Nathalia Liberatoscioli, de Polli Cellin Laurana, Ceylaner Serdar, Barcellos Rosa Modkovski Maria, Alanay Yasemin, Heath Karen E
Abstract excerpt
Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia. To date, only four variants have been reported; one nonsense, one splice-site, and two frameshifts in five AMDP families. Here, we report...
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