title: 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
authors: a Clinical Genetics Department , University Hospitals Leicester NHS Trust , Leicester , UK.
authors: Gabriela E
authors: GE
authors: Jones
authors: b Clinical Genetics Department , North of Scotland Regional Genetics Service , Aberdeen , UK.
authors: Lisa
authors: L
authors: Robertson
authors: c Cytogenetics Laboratory , University Hospitals Leicester NHS Trust , Leicester , UK.
authors: Paul
authors: P
authors: Warman
authors: a Clinical Genetics Department , University Hospitals Leicester NHS Trust , Leicester , UK.
authors: Emily V
authors: EV
authors: Craft
authors: c Cytogenetics Laboratory , University Hospitals Leicester NHS Trust , Leicester , UK.
authors: Lara
authors: L
authors: Cresswell
authors: a Clinical Genetics Department , University Hospitals Leicester NHS Trust , Leicester , UK.
authors: Pradeep C
authors: PC
authors: Vasudevan
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D051857:Otx Transcription Factors / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D014564:Urogenital Abnormalities / Q000235:genetics*
chemical_list: C497659:OTX2 protein, human; D051857:Otx Transcription Factors