Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.

Abstract excerpt

Pathogenic variants in the OFD1 gene have been classically associated with the Orofaciodigital syndrome type 1 in females, a condition previously considered to be X-linked dominant with male embryonic lethality. However, an increasing number of males with pathogenic OFD1 variants who survived bey...

Topics

• Child
• Ciliopathies
• Female
• Humans
• Male
• Mutation
• Orofaciodigital Syndromes
• Pedigree
• Phenotype
• Proteins