Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Francisca Díaz-GonzálezSaruchi WadhwaMaria Rodriguez-ZabalaSomesh KumarMiriam Aza-CarmonaLucia Sentchordi-MontanéMilagros AlonsoIstaq AhmadSana ZahraDeepak KumarNeetu KushwahUzma ShamimHaseena SaitSeema KapoorBelen RoldánGen NishimuraAmaka C OffiahMohammed FaruqKaren E Heath

Published in: Journal of medical genetics (2020)

In conclusion, we have clinically and molecularly characterised a new acromesomelic dysplasia, acromesomelic dysplasia, PRKG2 type (AMDP).

Keyphrases

protein kinase
copy number
nitric oxide
genome wide
intellectual disability
dna methylation
transcription factor
genome wide identification