Article
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
European journal of medical genetics - 1 Dec 2021
Arsov Todor, Kelecic Jadranka, Frkovic Sanda Huljev, Sestan Mario, Kifer Nastasia, Andrews Dan, Adamski Marcin, Jelusic Marija, Cook Matthew C
Abstract excerpt
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...
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