SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome-Reference-Cited by-同舟云学术

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Published:2017-01-09 Issue:2 Volume:49 Page:238-248
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Shaw Natalie D,Brand Harrison,Kupchinsky Zachary A,Bengani Hemant,Plummer Lacey,Jones Takako I,Erdin Serkan^ORCID,Williamson Kathleen A,Rainger Joe,Stortchevoi Alexei,Samocha Kaitlin,Currall Benjamin B,Dunican Donncha S,Collins Ryan L^ORCID,Willer Jason R,Lek Angela,Lek Monkol,Nassan Malik,Pereira Shahrin,Kammin Tammy,Lucente Diane,Silva Alexandra,Seabra Catarina M,Chiang Colby^ORCID,An Yu,Ansari Morad,Rainger Jacqueline K,Joss Shelagh,Smith Jill Clayton,Lippincott Margaret F,Singh Sylvia S,Patel Nirav,Jing Jenny W,Law Jennifer R,Ferraro Nalton,Verloes Alain,Rauch Anita,Steindl Katharina,Zweier Markus,Scheer Ianina,Sato Daisuke,Okamoto Nobuhiko,Jacobsen Christina,Tryggestad Jeanie,Chernausek Steven,Schimmenti Lisa A,Brasseur Benjamin,Cesaretti Claudia,García-Ortiz Jose E,Buitrago Tatiana Pineda,Silva Orlando Perez,Hoffman Jodi D,Mühlbauer Wolfgang,Ruprecht Klaus W,Loeys Bart L,Shino Masato,Kaindl Angela M,Cho Chie-Hee,Morton Cynthia C^ORCID,Meehan Richard R,van Heyningen Veronica,Liao Eric C,Balasubramanian Ravikumar,Hall Janet E,Seminara Stephanie B,Macarthur Daniel,Moore Steven A,Yoshiura Koh-ichiro,Gusella James F,Marsh Joseph A^ORCID,Graham John M,Lin Angela E,Katsanis Nicholas,Jones Peter L,Crowley William F,Davis Erica E,FitzPatrick David R,Talkowski Michael E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3743.pdf

Reference82 articles.

1. Bosma, J.F., Henkin, R.I., Christiansen, R.L. & Herdt, J.R. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. J. Craniofac. Genet. Dev. Biol. 1, 153–184 (1981).

2. Hogan, B.L. et al. Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J. Embryol. Exp. Morphol. 97, 95–110 (1986).

3. Glaser, T. et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat. Genet. 7, 463–471 (1994).

4. Schmidt-Sidor, B. et al. Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. Folia Neuropathol. 47, 372–382 (2009).

5. Solomon, B.D. et al. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am. J. Med. Genet. A. 149A, 2543–2546 (2009).

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