Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cassandra J. Jeavons"'
Publikováno v:
Sonography. 9:144-145
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::573fe38aa0d46529863fc147606231ff
https://doi.org/10.1002/sono.12310
https://doi.org/10.1002/sono.12310
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a739eb15c1fecf29fcee22d41af45a18
https://pubmed.ncbi.nlm.nih.gov/31977144
https://pubmed.ncbi.nlm.nih.gov/31977144