NEW GENE, NEW SKELETAL DYSPLASIA Intification and functional characterization of biallelic variants in PRKG2 as cause of a new Acromesomelic Dysplasia

Autor:	Gen Nishimura, Saruchi Wadhwa, Francisca Crespo, Karen E. Heath, Mohammed Faruq Heath, Seema Kapoor, C Offiah Amaka
Rok vydání:	2021
Předmět:	Pathology medicine.medical_specialty Dysplasia medicine Acromesomelic dysplasia Biology medicine.disease Gene
Zdroj:	IBJ Plus.
ISSN:	2531-0151
DOI:	10.24217/2531-0151.21v1s4.00053
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::0dd618c1a4e91810ffe8b83b2bedbd73 https://doi.org/10.24217/2531-0151.21v1s4.00053 Zobrazit plný text záznamu