Medicine
 |
|
17 february 2020 21:04:34 |
| Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss (BMC Medical Genetics) |
|
Tweet We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. |
| 228 viewsCategory: Genetics, Medicine |
 Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population (BMC Medical Genetics)Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation (BMC Medical Genetics) 
|
| blog comments powered by Disqus |
MyJournals.org
The latest issues of all your favorite science journals on one page
The latest issues of all your favorite science journals on one page
