Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
نویسندگان
چکیده
منابع مشابه
Septo-optic dysplasia: a case report.
Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gest...
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متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2019
ISSN: 1471-2350
DOI: 10.1186/s12881-019-0844-5