Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
April 2017
in “
Journal of Investigative Dermatology
”
Studysummary 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.
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