✦ LIBER ✦

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

✍ Scribed by Dhamija, Radhika; Graham, John M.; Smaoui, Nizar; Thorland, Erik; Kirmani, Salman

Book ID: 121682193
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 545 KB
Volume: 57
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2014.02.009

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo microdeletion of 5q14.3 excludin

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

✍ Keiko Shimojima; Akihisa Okumura; Harushi Mori; Shinpei Abe; Mitsuru Ikeno; Tosh 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

De novo deletion of chromosome 11q13.4–q

De novo deletion of chromosome 11q13.4–q14.3 in a boy with microcephaly, ptosis and developmental delay

✍ Josephine Wincent; Jacqueline Schoumans; Britt Marie Anderlid 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 346 KB

A de novo 163 kb interstitial 1q44 micro

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures

✍ Selmer, Kaja K.; Bryne, Einar; Rødningen, Olaug K.; Fannemel, Madeleine 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 391 KB

VAX1 mutation associated with microphtha

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

✍ Anne M. Slavotinek; Ryan Chao; Tomas Vacik; Mani Yahyavi; Hana Abouzeid; Tanya B 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB 👁 1 views

Prenatal diagnosis of a de novo intersti

Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction

✍ Yi-Hui Lin; Chih-Ping Chen; Tze-Chien Chen; Chun-Sen Hsu; Szu-Yuan Chou; Shu-Chi 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 177 KB

Identification of a Novel Mutation and a

Identification of a Novel Mutation and a De Novo Mutation in DKC1 in Two Chinese Pedigrees with Dyskeratosis Congenita

✍ Ding, Ying-guo; Zhu, Tie-shan; Jiang, Wei; Yang, Yong; Bu, Ding-fang; Tu, Ping; 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 708 KB