Khaled K Abu-Amero Altaf A Kondkar Ali M Hellani Thomas M Bosley Arif O Khan
10.17712/nsj.2016.1.20150098
Neurosciences (Riyadh)
2016 Jan;21(1):72-4.
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/26818173/
Abnormalities, Multiple / genetics Blepharoptosis / genetics Chromosomes, Human, Pair 6 Cranial Nerve Diseases / genetics Cullin Proteins / genetics Esotropia / genetics Gene Deletion
Abnormalities, Multiple / genetics Blepharoptosis / genetics Chromosomes, Human, Pair 6 Cranial Nerve Diseases / genetics Cullin Proteins / genetics Esotropia / genetics Gene Deletion Case Reports Blepharoptosis / congenital Child Cleft Palate / genetics Cranial Nerve Diseases / congenital Esotropia / congenital Female Humans Polydactyly / genetics Pulmonary Valve Stenosis / congenital Pulmonary Valve Stenosis / genetics Strabismus / congenital Strabismus / genetics CUL7 protein, human Cullin Proteins
PMC5224418
26818173
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder
2016