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

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 female...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Bukowska-Olech, Ewelina, Gawliński, Paweł, Jakubiuk-Tomaszuk, Anna, Jędrzejowska, Maria, Obersztyn, Ewa, Piechota, Michał, Bielska, Marta, Jamsheer, Aleksander
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8236199/
https://ncbi.nlm.nih.gov/pubmed/34174922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01914-1
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