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American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2467 - 2471
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal follow-up she was noted to have... 
array‐CGH | ZEB1 | deletion | agenesis of corpus callosum (ACC) | corneal dystrophy | autism spectrum disorder | chromosome 10p11.22 | array-CGH | HOMEODOMAIN TRANSCRIPTION FACTOR | DELTA-EF1 | ZINC-FINGER | GENETICS & HEREDITY | chromosome 10p11 | MUTATIONS | EXPRESSION | Autism Spectrum Disorder - genetics | Corneal Dystrophies, Hereditary - diagnostic imaging | Developmental Disabilities - physiopathology | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Corneal Dystrophies, Hereditary - genetics | Agenesis of Corpus Callosum - physiopathology | Developmental Disabilities - genetics | Zinc Finger E-box-Binding Homeobox 1 - genetics | Autism Spectrum Disorder - diagnostic imaging | Developmental Disabilities - diagnostic imaging | Magnetic Resonance Imaging | Corneal Dystrophies, Hereditary - physiopathology | Comparative Genomic Hybridization | Ultrasonography, Prenatal | Agenesis of Corpus Callosum - genetics | Female | Infant, Newborn | Autism Spectrum Disorder - physiopathology | Sequence Deletion - genetics | Genetic research | Cytogenetics | Autism | Agenesis | Genetic aspects | Genes | Cornea | Fetuses | Gene deletion | Corpus callosum | Haploinsufficiency | Homeobox | Magnetic resonance imaging | Clonal deletion | Corneal dystrophy | Map protein | Hybridization analysis | Dystrophy | Zinc finger proteins | Ultrasound | Index Medicus
Journal Article
Archivos de la Sociedad Espanola de Oftalmologia, 07/2018, Volume 93, Issue 7, p. e48
Journal Article
Klinische Monatsblatter fur Augenheilkunde, 03/2017, Volume 234, Issue 3, p. 354
Journal Article
Journal Article
Arquivos brasileiros de oftalmologia, ISSN 0004-2749, 11/2006, Volume 69, Issue 6, pp. 945 - 947
The purpose of this paper is to warn the ophthalmologist about the possibility of facing rare cases of corneal dystrophies. Clinical findings of a case of... 
Corneal Dystrophies, Hereditary - diagnostic imaging | Corneal Dystrophies, Hereditary - pathology | Pedigree | Humans | Corneal Stroma - pathology | Ultrasonography | Corneal Dystrophies, Hereditary - genetics | Female | Visual Acuity | Child | Diagnostic Techniques, Ophthalmological | Index Medicus
Journal Article
ARQUIVOS BRASILEIROS DE OFTALMOLOGIA, ISSN 0004-2749, 09/2008, Volume 71, Issue 5, pp. 722 - 724
The purpose of this case report is to correlate clinical features of granular dystrophy using 820 nm optical coherence tomography (OCT) in order to determine... 
Cornea | ULTRASOUND BIOMICROSCOPY | Corneal stroma | Corneal dystrophies, hereditary | ANTERIOR SEGMENT | OPHTHALMOLOGY | Tomography, optical coherence | Case reports [Publication type] | Radiography | Corneal Dystrophies, Hereditary - diagnostic imaging | Adult | Male | Tomography, Optical Coherence - methods | Humans | Index Medicus
Journal Article
Klinika oczna, ISSN 0023-2157, 2007, Volume 109, Issue 10-12, p. 438
To assess usefulness of optical coherence tomography (OCT) in adult-onset vitelliform macular dystrophy (AVMD) diagnosis. To assess retinal pathological... 
Radiography | Corneal Dystrophies, Hereditary - diagnostic imaging | Corneal Dystrophies, Hereditary - physiopathology | Tomography, Optical Coherence | Humans | Middle Aged | Female | Male | Aged | Corneal Dystrophies, Hereditary - diagnosis | Retrospective Studies | Fluorescein Angiography
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 11/1998, Volume 82, Issue 11, pp. 1339 - 1339
  Intraocular pressure (IOP) elevation occurs in approximately 15% of PPD patients. 1 It seems that extent of synechial closure is not fully correlated with... 
OPHTHALMOLOGY | Microscopy - methods | Corneal Dystrophies, Hereditary - diagnostic imaging | Humans | Ultrasonography | Adult | Anterior Chamber - diagnostic imaging | Female | Tissue Adhesions | Glaucoma | Ultrasonic imaging | Letters to the Editor
Journal Article
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