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- W2000264288 abstract "Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted." @default.
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- W2000264288 date "2013-10-01" @default.
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- W2000264288 title "Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature" @default.
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- W2000264288 doi "https://doi.org/10.1016/j.gene.2013.07.031" @default.
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