Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient

Autor:	Pachajoa Londoño, Harry Mauricio, Ramirez-Botero, Andrés Felipe
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	congenital hereditary and neonatal diseases and abnormalities Malformaciones congénitas Ciencias socio biomédicas Gen SOX2 Biomedical sciences Microftalmia sindrómica sense organs eye diseases
Zdroj:	Repositorio ICESI Universidad ICESI instacron:Universidad ICESI
Popis:	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. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2a55ad06a8ead2a1d88a19c925fc4210 https://hdl.handle.net/10906/82296 Zobrazit plný text záznamu