Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Péter Marschalkó"'
Autor:
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP)
Externí odkaz:
https://doaj.org/article/01050638aada46d6a2a539e23c80c091
Publikováno v:
Biomechanica Hungarica.