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An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.

Shago M, Sgro M, Barozzino T, Antinucci D, Chakraborty P, Chitayat D, Teshima I. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female. Am J Med Genet. 2002 Dec 01; 113(3):279-85.

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