prikaz prve stranice dokumenta Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
Pristup korisnicima matične ustanove
Znanstveni rad - Pismo
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
Clinical Genetics, 106 (2024), 6; 786-787. https://doi.org/10.1111/cge.14623
Hrvatin, Nenad; Pereza, Nina; Čaljkušić‐Mance, Tea; Vučerić, Tamara Mišljenović; Ostojić, Saša; Hodžić, Alenka; Maver, Aleš; Peterlin, Borut

Citirajte ovaj rad

Hrvatin, N., Pereza, N., Čaljkušić‐Mance, T., Vučerić, T. M., Ostojić, S., Hodžić, A. ... Peterlin, B. (2024). Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Clinical Genetics, 106. (6), 786-787. doi: 10.1111/cge.14623

Hrvatin, Nenad, et al. "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome." Clinical Genetics, vol. 106, br. 6, 2024, str. 786-787. https://doi.org/10.1111/cge.14623

Hrvatin, Nenad, Nina Pereza, Tea Čaljkušić‐Mance, Tamara Mišljenović Vučerić, Saša Ostojić, Alenka Hodžić, Aleš Maver i Borut Peterlin. "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome." Clinical Genetics 106, br. 6 (2024): 786-787. https://doi.org/10.1111/cge.14623

Hrvatin, N., et al. (2024) 'Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome', Clinical Genetics, 106(6), str. 786-787. doi: 10.1111/cge.14623

Hrvatin N, Pereza N, Čaljkušić‐Mance T, Vučerić TM, Ostojić S, Hodžić A, i sur.. Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Clinical Genetics [Internet]. 30.09.2024. [pristupljeno 18.12.2024.];106(6):786-787. doi: 10.1111/cge.14623

N. Hrvatin, et al., "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome", Clinical Genetics, vol. 106, br. 6, str. 786-787, Rujan 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:720913. [Citirano: 18.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:720913
Prijavite se u repozitorij kako biste mogli spremiti objekt u svoju listu.
Podaci o radu
Naslov (engleski)Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
AutorNenad Hrvatin
AutorNina Pereza
AutorTea Čaljkušić‐Mance
AutorTamara Mišljenović Vučerić
AutorSaša Ostojić
AutorAlenka Hodžić
AutorAleš Maver
AutorBorut Peterlin
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Oftalmologija
Sažetak (engleski)
ABSTRACT Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic behaviour, corpus callosum hypoplasia and seizures). To date, approximately a hundred cases of the syndrome have been described, with an estimated prevalence of 1 in 100 000–250 000. BBSOAS is caused by the loss of function of the NR2F1 gene (nuclear receptor subfamily 2 group F member 1), which encodes the COUP‐TFI (Chicken ovalbumin upstream promotor‐transcription factor 1). COUP‐TFI functions as a homodimer and is one of the major transcriptional regulators directing cortical arealization, cell differentiation and maturation. Most cases of BBSOAS occur de novo, and one case was previously described in which the disease resulted from gonadal mosaicism. In the present case, we report two sisters with BBSOAS, a novel nonsense mutation in the NR2F1 gene and potential gonadal mosaicism as the cause of this rare disease, making it the second such case described in the literature.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Pismo
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaClinical Genetics
Brojčani podacivol. 106, br. 6, str. 786-787
p-ISSN0009-9163
e-ISSN1399-0004
DOIhttps://doi.org/10.1111/cge.14623
URN:NBNurn:nbn:hr:184:720913
Datum objave publikacije2024-09-30
URL dokumentahttps://onlinelibrary.wiley.com/doi/10.1111/cge.14623
Vrsta resursaTekst
Prava pristupaInstitucijski pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-12-18 09:53:37