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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.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.