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

Internet

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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