共查询到3条相似文献,搜索用时 2 毫秒
1.
Luca Bartolini Stefano Sartori Elisabetta Lenzini Chiara Rigon Elisa Cainelli Cristina Agrati Irene Toldo Marta Donà Eva Trevisson 《Gene》2013
We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. 相似文献
2.
Armando Grossi Alessia Palma Ginevra Zanni Antonio Novelli Sara Loddo Marco Cappa Alessandra Fierabracci 《Gene》2013
Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients. 相似文献
3.
Raquel Rodríguez-López José M. Carbonell Pérez Aránzazu Margallo Balsera Guillermo Gervasini Rodríguez Trinidad Herrera Moreno Mayte García de Cáceres Marta González-Carpio Serrano Felipe Casanueva Freijo Juan Ramón González Ruiz Francisco Barros Angueira Pilar Méndez Pérez Manuela Núñez Estévez Enrique Galán Gómez 《Gene》2013