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http://dx.doi.org/10.1002/ajmg.a.30282 | DOI Listing |
Fetal Pediatr Pathol
December 2023
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Ophthalmic Genet
December 2017
b Department of Clinical Genetics , City Campus, Nottingham University Hospitals NHS Trust, Nottingham , UK.
Am J Med Genet A
February 2017
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Am J Med Genet A
November 2016
Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
Congenit Anom (Kyoto)
November 2016
Universidad Icesi, Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center, Cali, Colombia.
Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3.
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