Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2 - PubMed (original) (raw)

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Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2

J Allanson et al. J Med Genet. 1991 Feb.

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• De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.
  Temple IK, Hurst JA, Hing S, Butler L, Baraitser M. Temple IK, et al. J Med Genet. 1990 Jan;27(1):56-8. doi: 10.1136/jmg.27.1.56. J Med Genet. 1990. PMID: 2308156 Free PMC article.
• Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
  al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. al-Gazali LI, et al. J Med Genet. 1990 Jan;27(1):59-63. doi: 10.1136/jmg.27.1.59. J Med Genet. 1990. PMID: 2308157 Free PMC article.

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