X-linked frontometaphyseal dysplasia 1 ; Х-сцепленная фронтометафизарная дисплазия 1-го типа

Συγγραφείς: O. Ch. Mazur, S. V. Baiko, A. V. Kilchevsky, E. P. Mikhalenko, S. L. Morozov, Yu. S. Stankevich, T. S. Kursova, Yu. A. Poleshchuk, О. Ч. Мазур, С. В. Байко, А. В. Кильчевский, Е. П. Михаленко, С. Л. Морозов, Ю. С. Станкевич, Т. С. Курсова, Ю. А. Полещук

Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 110-117 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 110-117 ; 2500-2228 ; 1027-4065

Θεματικοί όροι: полноэкзомное секвенирование, frontometaphyseal dysplasia type 1, facial dysmorphism, congenital anomalies of the urinary tract and kidneys, congenital heart disease, bone dysplasia, whole exome sequencing, фронтометафизарная дисплазия 1-го типа, лицевой дисморфизм, врожденные аномалии мочевых путей и почек, врожденный порок сердца, костная дисплазия

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/2012
https://doi.org/10.21508/1027-4065-2024-69-3-110-117