Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

doi:10.1016/j.ajhg.2010.04.002

Article

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

American journal of human genetics - 14 May 2010

Uz Elif, Alanay Yasemin, Aktas Dilek, Vargel Ibrahim, Gucer Safak, Tuncbilek Gokhan, von Eggeling Ferdinand, Yilmaz Engin, Deren Ozgur, Posorski Nicole, Ozdag Hilal, Liehr Thomas, Balci Sevim, Alikasifoglu Mehmet, Wollnik Bernd, Akarsu Nurten A

Abstract excerpt

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome...

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Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

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