prikaz prve stranice dokumenta Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
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Scientific paper - Original scientific paper
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

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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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, p. 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 and 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, p. 16035. doi: 10.1038/hgv.2016.35

Čulić V, Miyake N, Janković S, Petrović D, Šimunović M, Đapić T, and sur.. Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Human Genome Variation [Internet]. 2016 October 13 [cited 2024 November 26];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, p. 16035, October 2016. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:295993. [Accessed: 26 November 2024]

Metadata
Title (english)Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
AuthorVida Čulić
AuthorNoriko Miyake
AuthorSunčana Janković
AuthorDavor Petrović
AuthorMarko Šimunović
AuthorTomislav Đapić
AuthorMasaaki Shiina
AuthorKazuhiro Ogata
AuthorNaomichi Matsumoto
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleHuman Genome Variation
Numberingvol. 3, p. 16035
p-ISSN2054-345X
DOIhttps://doi.org/10.1038/hgv.2016.35
URN:NBNurn:nbn:hr:105:295993
Publication2016-10-13
Document URLhttps://doi.org/10.1038/hgv.2016.35
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:46:37