关键词: Connexin 43 GJA1 Oculodentodigital dysplasia Targeted gene panel sequencing
Mesh : Child Connexin 43 / genetics Craniofacial Abnormalities / diagnostic imaging genetics DNA Mutational Analysis Eye Abnormalities / diagnostic imaging genetics Foot Deformities, Congenital / diagnostic imaging genetics Gap Junctions / pathology Humans Male Mutation / genetics Syndactyly / diagnostic imaging genetics Tooth Abnormalities / diagnostic imaging genetics