Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

Autor:	Ali M. Hellani, Arif O. Khan, Khaled K. Abu-Amero, Thomas M. Bosley, Altaf A. Kondkar
Rok vydání:	2016
Předmět:	Pediatrics medicine.medical_specialty genetic structures Ptosis medicine Blepharoptosis Humans Cranial nerve disease Abnormalities Multiple Clinical Note Copy-number variation Child Esotropia Polydactyly business.industry Ocular motility Chromosome Gene deletion Cullin Proteins medicine.disease Cranial Nerve Diseases eye diseases Cleft Palate Pulmonary Valve Stenosis Strabismus Psychiatry and Mental health Chromosomes Human Pair 6 Female Neurology (clinical) medicine.symptom business Gene Deletion
Zdroj:	Neurosciences
ISSN:	1658-3183
Popis:	The congenital cranial dysinnervation disorders (CCDDs) encompass most congenital, static restrictions of ocular motility, often associated with ptosis, and retraction of the globe.[1][1] The CCDDs can be monogenic or chromosomal in origin. Although chromosomal copy number variations (CNVs) has been
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a8c038f3599b1d3a5bd54dd2062e2c https://doi.org/10.17712/nsj.2016.1.20150098 Zobrazit plný text záznamu