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A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome

PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and...

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Detalles Bibliográficos
Autores principales: Alnefaie, Maram, Jefri, Mona, Almahmoudi, Fayqah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220324/
https://www.ncbi.nlm.nih.gov/pubmed/34189344
http://dx.doi.org/10.1016/j.ajoc.2021.101150