Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24

    Rikimaru Hayashi, Kazue Yoshida, Riichiro Abe … Yutaka Shimomura
    Studysummary This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
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