Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Abstract Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males. Results We have recruited and screened a...

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Bibliographic Details
Main Authors: Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Monozygosity
Discordant phenotype
EFNB1
Ephrin B1
Coronal craniosynostosis
Custom targeted next-generation sequencing
Online Access:https://doi.org/10.1186/s13023-021-01914-1

Internet

https://doi.org/10.1186/s13023-021-01914-1

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