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This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study used high-resolution imaging and genetic analysis to investigate hair density in the Dazu black goat, identifying key genes like GJA1 and GPRC5D involved in follicle development and maintenance, and highlighted their role in animal hair density regulation.