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Relative anterior microphthalmos in oculodentodigital dysplasia

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anteri...

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Detalles Bibliográficos
Autores principales:	Orosz, Orsolya, Fodor, Mariann, Balogh, István, Losonczy, Gergely
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819136/ https://www.ncbi.nlm.nih.gov/pubmed/29380799 http://dx.doi.org/10.4103/ijo.IJO_756_17

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