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

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 fem...

Source: Orphanet Journal of Rare Diseases - June 26, 2021 Category: Internal Medicine Authors: Ewelina Bukowska-Olech, Pawe ł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska and Aleksander Jamsheer Tags: Research Source Type: research