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An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

BACKGROUND: Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patient...

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Detalles Bibliográficos
Autores principales: Siala, Olfa, Belguith, Neila, Fakhfakh, Faiza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883382/
https://www.ncbi.nlm.nih.gov/pubmed/24427506