Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12

Clin Dysmorphol. 2015 Jan;24(1):34-7. doi: 10.1097/MCD.0000000000000062.

Authors

Daniëlle G M Bosch¹, Frouke N Boonstra, Rolph Pfundt, Frans P M Cremers, Bert B A de Vries

Affiliation

¹ aBartiméus Institute for the Visually Impaired, Zeist bDepartment of Human Genetics cDonders Institute for Brain, Cognition and Behavior dRadboud Institute for Molecular Life Science, Radboud University Medical Center, Nijmegen, The Netherlands.

PMID: 25356883
DOI: 10.1097/MCD.0000000000000062

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Autistic Disorder / complications*
Base Pairing / genetics*
Child
Chromosomes, Human, Pair 10 / genetics*
Female
Genotype
Humans
Infant
Infant, Newborn
Male
Pancreatitis / complications*
Sequence Deletion / genetics*
Vision Disorders / complications*