14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Jones, Gabriela E

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability. [electronic resource] - Ophthalmic genetics 09 2016 - 352-3 p. digital

Publication Type: Case Reports; Letter

1744-5094

10.3109/13816810.2015.1059463 doi


Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 14--genetics
Female
Humans
Intellectual Disability--genetics
Limb Deformities, Congenital--genetics
Microphthalmos--genetics
Nervous System Malformations--genetics
Oligonucleotide Array Sequence Analysis
Otx Transcription Factors--genetics
Pedigree
Sequence Deletion
Urogenital Abnormalities--genetics