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- Title
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.
- Authors
Abu-Amero, Khaled K.; Kondkar, Altaf A.; Hellani, Ali M.; Bosley, Thomas M.; Khan, Arif O.
- Abstract
The article presents a case study of a young 6-year-old girl with strabismus and multiple congenital anomalies, diagnosed with mild pulmonary valve stenosis and neonatal seizures that did not recur after the neonatal period. The article discusses syndromic congenital cranial dysinnervation disorders.
- Subjects
CONGENITAL disorders; PULMONARY valve stenosis in children; HEART valve diseases in children; CRANIAL nerve diseases; PATIENTS
- Publication
Neurosciences, 2016, Vol 21, Issue 1, p72
- ISSN
1319-6138
- Publication type
Case Study
- DOI
10.17712/nsj.2016.1.20150098