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

Document Type

Article

Author

Díaz-González, F.; Rodriguez-Zabala, M.; Aza-Carmona, M.; Sentchordi-Montané, L.; Heath, K.E.; Wadhwa, S.; Ahmad, I.; Zahra, S.; Kumar, D.; Kushwah, N.; Shamim, U.; Faruq, M.; Kumar, S.; Sait, H.; Kapoor, S.; Alonso, M.; Roldán, B.; Nishimura, G.; Offiah, A.C.

Source

In: Journal of Medical Genetics. (Journal of Medical Genetics, 1 January 2022, 59(1):28-38)

Subject

Language

English

ISSN

14686244
00222593

Online Access

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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