Your browser doesn't support javascript.
loading
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
J Pediatr Ophthalmol Strabismus ; 57: e8-e11, 2020 Jan 24.
Article en En | MEDLINE | ID: mdl-31978233
ABSTRACT
A 4-month-old male infant with frontometaphyseal dysplasia and de novo FLNA gene mutation died of complications of disease. Post-mortem examination revealed accessory iris membranes. This is the first report in the literature of accessory iris membranes in a confirmed case of FLNA mutation and phenotypic anomalies consistent with frontometaphyseal dysplasia. [J Pediatr Ophthalmol Strabismus. 2020;57e8-e11.].
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Iris / Filaminas / Frente Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: En Revista: J Pediatr Ophthalmol Strabismus Año: 2020 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Iris / Filaminas / Frente Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: En Revista: J Pediatr Ophthalmol Strabismus Año: 2020 Tipo del documento: Article