Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Josianne N, Carriço"'
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with HDR syndrom
Externí odkaz:
https://doaj.org/article/a7df735ee3134e86aeb39bef34d0f5f8
Autor:
Hermany, Munguba, Bidisha, Chattopadhyaya, Stephan, Nilsson, Josianne N, Carriço, Fatima, Memic, Polina, Oberst, Renata, Batista-Brito, Ana Belen, Muñoz-Manchado, Michael, Wegner, Gordon, Fishell, Graziella, Di Cristo, Jens, Hjerling-Leffler
Publikováno v:
The Journal of Neuroscience
Cortical parvalbumin-expressing (Pvalb+) neurons provide robust inhibition to neighboring pyramidal neurons, crucial for the proper functioning of cortical networks. This class of inhibitory neurons undergoes extensive synaptic formation and maturati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd79d23b364f8ca49d62940c8e8230f5
https://pubmed.ncbi.nlm.nih.gov/34503995
https://pubmed.ncbi.nlm.nih.gov/34503995