Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
Author:
Affiliation:
1. Department of Pediatric Genetics, Cerrahpaşa Medical Faculty Istanbul University‐Cerrahpaşa Istanbul Turkey
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14277
Reference5 articles.
1. Genetics of human isolated acromesomelic dysplasia
2. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
3. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
4. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle
5. Variable skeletal phenotypes associated with biallelic variants in PRKG2
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1. Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome;Arquivos Brasileiros de Cardiologia;2024-08
2. Achados Ecocardiográficos em Crianças de Pacientes com Diagnóstico de Síndrome do PRKAG2;Arquivos Brasileiros de Cardiologia;2024-08
3. Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia;Clinical Genetics;2023-12-10
4. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant;European Journal of Human Genetics;2023-10-04
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