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.

Eitemau Tebyg

• Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.
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  Cyhoeddwyd: (1991)
• Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
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• Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
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