Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Madhava, Rao Vupputuri"'
Publikováno v:
European Journal of Medical Genetics. 65:104591
Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76ec704a417f8db259f847a5c19ac974
https://doi.org/10.1016/j.ejmg.2022.104591
https://doi.org/10.1016/j.ejmg.2022.104591
Autor:
Nikhil Tandon, Madhava Rao Vupputuri, Neeta Kumar, Nandita Gupta, Ravinder Goswami, Debarti Ray
Publikováno v:
The American journal of clinical nutrition. 83(6)
Recent studies show a wide prevalence of hypovitaminosis D in Asian Indians.The objective was to assess the functional significance of 25-hydroxyvitamin D [25(OH)D] deficiency, vitamin D receptor (VDR) gene, and parathyroid hormone (PTH) gene polymor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c330daf4c15dad7f9d112fd8362383d1
https://pubmed.ncbi.nlm.nih.gov/16762954
https://pubmed.ncbi.nlm.nih.gov/16762954