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Acromesomelic Dysplasia, PRKG2 Type

MedGen UID:
1790808
Concept ID:
C5552974
Disease or Syndrome

Definition

A genetic condition caused by mutation(s) in the PRKG2 gene, encoding cGMP-dependent protein kinase 2. It is characterized by acromelia and mesomelia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcromesomelic Dysplasia, PRKG2 Type

Recent clinical studies

Etiology

Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B
Clin Genet 2023 May;103(5):574-579. Epub 2022 Dec 20 doi: 10.1111/cge.14277. PMID: 36504352

Diagnosis

Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B
Clin Genet 2023 May;103(5):574-579. Epub 2022 Dec 20 doi: 10.1111/cge.14277. PMID: 36504352

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