منابع مشابه
A girl with the Weaver syndrome.
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included promi...
متن کاملAutosomal dominant inheritance of Weaver syndrome.
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.
متن کاملWeaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clust...
متن کاملRay Weaver and Drazen Prelec*
Vol. L (June 2013), 289–302 289 *Ray Weaver is Assistant Professor of Business Administration, Harvard Business School, Harvard University (e-mail: [email protected]). Drazen Prelec is Professor of Management, Management Science and Economics, MIT Sloan School of Management, Massachusetts Institute of Technology (e-mail: [email protected]). This research was supported by NSF SES0519141 and the John...
متن کاملLanguage Weaver Arabic->English MT
This presentation is primarily a demonstration of a working statistical machine translation system which translates Modern Standard Arabic into English.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.5.332