Výsledky vyhledávání - "Nana Ekuntan Mensah"

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)

Autor: Ataf H. Sabir, Joo Wook Ahn, Jessica Man, Nana Ekuntan Mensah, Moira Cheung, Melita Irving, Juhi Singhal

Publikováno v: Clinical dysmorphology. 30(3)

We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). We highlight phenotypic differen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d719b617f95e6251a162fc34d93c846f
https://pubmed.ncbi.nlm.nih.gov/33605604

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání