prikaz prve stranice dokumenta Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
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Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
Croatian Medical Journal, 61 (2020), 1; 62-65. https://doi.org/10.3325/cmj.2020.61.62
Gotovac Jerčić, Kristina; Blažeković, Antonela; Hančević, Mirea; Bilić, Ervina; Borovečki, Fran

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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Gotovac Jerčić, K., Blažeković, A., Hančević, M., Bilić, E. i Borovečki, F. (2020). Congenital factor XI deficiency caused by a novel F11 missense variant: a case report. Croatian Medical Journal, 61. (1), 62-65. doi: 10.3325/cmj.2020.61.62

Gotovac Jerčić, Kristina, et al. "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report." Croatian Medical Journal, vol. 61, br. 1, 2020, str. 62-65. https://doi.org/10.3325/cmj.2020.61.62

Gotovac Jerčić, Kristina, Antonela Blažeković, Mirea Hančević, Ervina Bilić i Fran Borovečki. "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report." Croatian Medical Journal 61, br. 1 (2020): 62-65. https://doi.org/10.3325/cmj.2020.61.62

Gotovac Jerčić, K., et al. (2020) 'Congenital factor XI deficiency caused by a novel F11 missense variant: a case report', Croatian Medical Journal, 61(1), str. 62-65. doi: 10.3325/cmj.2020.61.62

Gotovac Jerčić K, Blažeković A, Hančević M, Bilić E, Borovečki F. Congenital factor XI deficiency caused by a novel F11 missense variant: a case report. Croatian Medical Journal [Internet]. 29.02.2020. [pristupljeno 27.12.2024.];61(1):62-65. doi: 10.3325/cmj.2020.61.62

K. Gotovac Jerčić, A. Blažeković, M. Hančević, E. Bilić i F. Borovečki, "Congenital factor XI deficiency caused by a novel F11 missense variant: a case report", Croatian Medical Journal, vol. 61, br. 1, str. 62-65, Veljača 2020. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:375828. [Citirano: 27.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:375828
Podaci o radu
Naslov (engleski)Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
AutorKristina Gotovac Jerčić
AutorAntonela Blažeković
AutorMirea Hančević
AutorErvina Bilić
AutorFran Borovečki
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA ANATOMIJU)
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA NEUROLOGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Anatomija
Sažetak (engleski)
Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe FXI deficiency, whereas heterozygotes show partial or mild deficiency. However, the genotype-phenotype relationship is difficult to establish, even among individuals within the same family. We report on a female patient with a heterozygous variant in F11 and FXI deficiency (49 IU/dL), who suffers from menorrhagia since menarche and easy bruising. She experienced excessive bleeding during thyroidectomy and after a cesarean section. Her younger sister, who carries the same heterozygous variant in F11 and has mild FXI deficiency (47 IU/dL), has menorrhagia without other bleeding difficulties although she has undergone several surgeries. Their father, who carries the same missense variant, has not experienced any bleeding difficulties (but he has not undergone any surgeries either). The family study revealed that the A428C mutation was inherited from the father. This variant has not previously been described in the literature and is the first F11 variant described in the Croatian population. Our study showed that even when family members have the same germline F11 variant, they still may experience phenotypic variability, making disease prognosis more complex.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian Medical Journal
Brojčani podacivol. 61, br. 1, str. 62-65
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2020.61.62
URN:NBNurn:nbn:hr:105:375828
Datum objave publikacije2020-02-29
URL dokumentahttp://www.cmj.hr/2020/61/1/32118380.htm
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2020-10-29 08:07:48