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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
Human Genome Variation, 3 (2016); 16035. https://doi.org/10.1038/hgv.2016.35
Čulić, Vida; Miyake, Noriko; Janković, Sunčana; Petrović, Davor; Šimunović, Marko; Đapić, Tomislav; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi

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Čulić, V., Miyake, N., Janković, S., Petrović, D., Šimunović, M., Đapić, T. ... Matsumoto, N. (2016). Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Human Genome Variation, 3., 16035. doi: 10.1038/hgv.2016.35

Čulić, Vida, et al. "Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation." Human Genome Variation, vol. 3, 2016, str. 16035. https://doi.org/10.1038/hgv.2016.35

Čulić, Vida, Noriko Miyake, Sunčana Janković, Davor Petrović, Marko Šimunović, Tomislav Đapić, Masaaki Shiina, Kazuhiro Ogata i Naomichi Matsumoto. "Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation." Human Genome Variation 3 (2016): 16035. https://doi.org/10.1038/hgv.2016.35

Čulić, V., et al. (2016) 'Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation', Human Genome Variation, 3, str. 16035. doi: 10.1038/hgv.2016.35

Čulić V, Miyake N, Janković S, Petrović D, Šimunović M, Đapić T, i sur.. Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Human Genome Variation [Internet]. 13.10.2016. [pristupljeno 18.04.2024.];3:16035. doi: 10.1038/hgv.2016.35

V. Čulić, et al., "Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation", Human Genome Variation, vol. 3, str. 16035, Listopad 2016. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:295993. [Citirano: 18.04.2024.]

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Naslov (engleski)Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
AutorVida Čulić
AutorNoriko Miyake
AutorSunčana Janković
AutorDavor Petrović
AutorMarko Šimunović
AutorTomislav Đapić
AutorMasaaki Shiina
AutorKazuhiro Ogata
AutorNaomichi Matsumoto
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaHuman Genome Variation
Brojčani podacivol. 3, str. 16035
p-ISSN2054-345X
DOIhttps://doi.org/10.1038/hgv.2016.35
URN:NBNurn:nbn:hr:105:295993
Datum objave publikacije2016-10-13
URL dokumentahttps://doi.org/10.1038/hgv.2016.35
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:46:37