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Article

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

American journal of medical genetics. Part A - 1 May 2020

Acosta-Fernández Elizabeth, Zenteno Juan C, Chacón-Camacho Oscar F, Peña-Padilla Christian, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Romo-Huerta Carmen O, Zepeda-Romero Luz C, López-Marure Eloy, Acosta-León Jorge, García-Cruz Diana, Maciel-Cruz Eric Jonathan, Corona-Rivera Jorge Román

Abstract excerpt

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein...

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Identifiers

PMID: 32022998
DOI: 10.1002/ajmg.a.61506

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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.PMID 32022998Read ↗

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