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单词 Placental sulfatase deficiency
释义

Placental sulfatase deficiency

英语百科

X-linked ichthyosis

(重定向自Placental sulfatase deficiency)
X linked ichthyosis
X linked ichthyosis - this boy has an infant brother and maternal uncle with the same affliction
X-linked recessive inheritance: Affected boys may inherit a deletion or mutation of the STS gene from their mothers.

X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency," and "X-linked recessive ichthyosis")(from the Ancient Greek 'ichthys' meaning 'fish') is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.

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