Journal
Nat Commun
Publication Date
3-12-2019
Volume
10
Issue
1
Inclusive Pages
1180
First Page
1180
Last Page
1180
Document Type
Open Access Publication
DOI
10.1038/s41467-019-08547-w
Rights and Permissions
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. https://www.nature.com/articles/s41467-019-08547-w This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Recommended Citation
Lahrouchi, Najim; George, Aman; Ratbi, Ilham; Schneider, Ronen; Elalaoui, Siham C; Moosa, Shahida; Bharti, Sanita; Sharma, Ruchi; Abu-Asab, Mones; Onojafe, Felix; Adadi, Najlae; Lodder, Elisabeth M; Laarabi, Fatima-Zahra; Lamsyah, Yassine; Elorch, Hamza; Chebbar, Imane; Postma, Alex V; Lougaris, Vassilios; Plebani, Alessandro; Altmueller, Janine; Kyrieleis, Henriette; Meiner, Vardiella; McNeill, Helen; Bharti, Kapil; Lyonnet, Stanislas; Wollnik, Bernd; Henrion-Caude, Alexandra; Berraho, Amina; Hildebrandt, Friedhelm; Bezzina, Connie R; Brooks, Brian P; and Sefiani, Abdelaziz, "Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.." Nat Commun. 10, 1. 1180.1180 - 1180. (2019).
https://digitalcommons.wustl.edu/open_access_pubs/7908
Peer Review File
41467_2019_8547_MOESM2_ESM.pdf (17185 kB)
Supplementary Information
41467_2019_8547_MOESM3_ESM.xlsx (2671 kB)
Source Data File
