Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females
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Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by EFNB1 pathogenic variants. It is characterized by coronal synostosis, facial asymmetry, hypertelorism, bifid nasal tip, woolly hair, longitudinal nail ridging, and skeletal anom... ...
