Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia (CROSBI ID 299810)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Arsov, Todor ; Kelečić, Jadranka ; Huljev Frković, Sanda ; Šestan, Mario ; Kifer, Nastasia ; Andrews, Dan ; Adamski, Marcin ; Jelušić, Marija ; Cook, Matthew C.
engleski
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia
We present a case with congenital syndromic asplenia associated with immune deficiency, glandular hypospadias and cryptorchidism. Genetic analysis identified a likely pathogenic de novo variant in NR2F2. Pathogenic NR2F2 variants have been associated with other congenital anomalies affecting the central axis, such as congenital heart disease and diaphragmatic hernia, which were not part of our patient's clinical features. The association between NR2F2 and asplenia (including glandular hypospadias and cryptorchidism) has been described in animal models and our report is the first expanding the NR2F2 clinical spectrum in humans to include asplenia.
NR2F2 ; COUPTFII ; asplenia ; congenital anomalies ; hypospadias ; cryptorchidism
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Podaci o izdanju
64 (12)
2021.
104347
4
objavljeno
1769-7212
1878-0849
10.1016/j.ejmg.2021.104347
Povezanost rada
Kliničke medicinske znanosti