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Pregled bibliografske jedinice broj: 1152574

Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

Arsov, Todor; Kelečić, Jadranka; Huljev Frković, Sanda; Šestan, Mario; Kifer, Nastasia; Andrews, Dan; Adamski, Marcin; Jelušić, Marija; Cook, Matthew C.
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia // European journal of medical genetics, 64 (2021), 12; 104347, 4 doi:10.1016/j.ejmg.2021.104347 (međunarodna recenzija, članak, znanstveni)

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Naslov
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

Autori
Arsov, Todor ; Kelečić, Jadranka ; Huljev Frković, Sanda ; Šestan, Mario ; Kifer, Nastasia ; Andrews, Dan ; Adamski, Marcin ; Jelušić, Marija ; Cook, Matthew C.

Izvornik
European journal of medical genetics (1769-7212) 64 (2021), 12; 104347, 4

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
NR2F2 ; COUPTFII ; asplenia ; congenital anomalies ; hypospadias ; cryptorchidism

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Nastasia Kifer (autor)

Avatar Url Marija Jelušić (autor)

Avatar Url Sanda Huljev Frković (autor)

Avatar Url Mario Šestan (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Arsov, Todor; Kelečić, Jadranka; Huljev Frković, Sanda; Šestan, Mario; Kifer, Nastasia; Andrews, Dan; Adamski, Marcin; Jelušić, Marija; Cook, Matthew C.
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia // European journal of medical genetics, 64 (2021), 12; 104347, 4 doi:10.1016/j.ejmg.2021.104347 (međunarodna recenzija, članak, znanstveni)
Arsov, T., Kelečić, J., Huljev Frković, S., Šestan, M., Kifer, N., Andrews, D., Adamski, M., Jelušić, M. & Cook, M. (2021) Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia. European journal of medical genetics, 64 (12), 104347, 4 doi:10.1016/j.ejmg.2021.104347.
@article{article, author = {Arsov, Todor and Kele\v{c}i\'{c}, Jadranka and Huljev Frkovi\'{c}, Sanda and \v{S}estan, Mario and Kifer, Nastasia and Andrews, Dan and Adamski, Marcin and Jelu\v{s}i\'{c}, Marija and Cook, Matthew C.}, year = {2021}, pages = {4}, DOI = {10.1016/j.ejmg.2021.104347}, chapter = {104347}, keywords = {NR2F2, COUPTFII, asplenia, congenital anomalies, hypospadias, cryptorchidism}, journal = {European journal of medical genetics}, doi = {10.1016/j.ejmg.2021.104347}, volume = {64}, number = {12}, issn = {1769-7212}, title = {Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia}, keyword = {NR2F2, COUPTFII, asplenia, congenital anomalies, hypospadias, cryptorchidism}, chapternumber = {104347} }
@article{article, author = {Arsov, Todor and Kele\v{c}i\'{c}, Jadranka and Huljev Frkovi\'{c}, Sanda and \v{S}estan, Mario and Kifer, Nastasia and Andrews, Dan and Adamski, Marcin and Jelu\v{s}i\'{c}, Marija and Cook, Matthew C.}, year = {2021}, pages = {4}, DOI = {10.1016/j.ejmg.2021.104347}, chapter = {104347}, keywords = {NR2F2, COUPTFII, asplenia, congenital anomalies, hypospadias, cryptorchidism}, journal = {European journal of medical genetics}, doi = {10.1016/j.ejmg.2021.104347}, volume = {64}, number = {12}, issn = {1769-7212}, title = {Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia}, keyword = {NR2F2, COUPTFII, asplenia, congenital anomalies, hypospadias, cryptorchidism}, chapternumber = {104347} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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