Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...
Primary ciliary dyskinesia (PCD; Immotile cilia syndrome; OMIM 242650) is an autosomal recessive disorder resulting from dysmotility of cilia and sperm flagella. 1 Cilia and flagella function either ...
Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...
A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy ...
1 Institute of Genomic and Personalized Medicine, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 Wuhan Women and Children Hospital, Wuhan, ...
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the ...
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