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Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.
A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1.
Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.