De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development-Reference-Cited by-同舟云学术

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Published:2017-01-09 Issue:2 Volume:49 Page:249-255
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Gordon Christopher T^ORCID,Xue Shifeng,Yigit Gökhan,Filali Hicham,Chen Kelan,Rosin Nadine,Yoshiura Koh-ichiro,Oufadem Myriam,Beck Tamara J,McGowan Ruth,Magee Alex C,Altmüller Janine,Dion Camille,Thiele Holger,Gurzau Alexandra D,Nürnberg Peter,Meschede Dieter,Mühlbauer Wolfgang,Okamoto Nobuhiko,Varghese Vinod,Irving Rachel,Sigaudy Sabine,Williams Denise,Ahmed S Faisal^ORCID,Bonnard Carine,Kong Mung Kei,Ratbi Ilham,Fejjal Nawfal,Fikri Meriem,Elalaoui Siham Chafai,Reigstad Hallvard,Bole-Feysot Christine,Nitschké Patrick,Ragge Nicola,Lévy Nicolas,Tunçbilek Gökhan,Teo Audrey S M,Cunningham Michael L,Sefiani Abdelaziz,Kayserili Hülya,Murphy James M,Chatdokmaiprai Chalermpong,Hillmer Axel M^ORCID,Wattanasirichaigoon Duangrurdee,Lyonnet Stanislas,Magdinier Frédérique,Javed Asif,Blewitt Marnie E^ORCID,Amiel Jeanne,Wollnik Bernd,Reversade Bruno^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3765.pdf

Reference49 articles.

1. Brasseur, B., Martin, C.M., Cayci, Z., Burmeister, L. & Schimmenti, L.A. Bosma arhinia microphthalmia syndrome: clinical report and review of the literature. Am. J. Med. Genet. A. 170A, 1302–1307 (2016).

2. Graham, J.M. Jr. & Lee, J. Bosma arhinia microphthalmia syndrome. Am. J. Med. Genet. A. 140, 189–193 (2006).

3. Shaw, N.D. et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat. Genet. http://dx.doi.org/10.1038/ng.3743 (2017).

4. Forni, P.E. & Wray, S. GnRH, anosmia and hypogonadotropic hypogonadism—where are we? Front. Neuroendocrinol. 36, 165–177 (2015).

5. Szabo-Rogers, H.L. et al. Novel skeletogenic patterning roles for the olfactory pit. Development 136, 219–229 (2009).

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