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The ACOX1 gene is located on chromosome 17q25.1 and contains 15 exons that generate three alternatively spliced mRNAs, each of which encode a distinct protein
The most common sites are the scalp, eyebrows, and eyelids, though any area of bodily hair can be affected
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Journal of Neurochemistry, 97 (2), 303309
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