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

@article{Uz2010DisruptionOA,
  title={Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.},
  author={Elif Uz and Yasemin Alanay and Dilek Aktaş and Ibrahim Vargel and Safak Guçer and Gokhan Tuncbilek and Ferdinand von Eggeling and Engin Yilmaz and Ozgur Deren and Nicole Posorski and Hil{\^a}l Ozdag and Thomas Liehr and Sevim Balci and Mehmet Alikaşifoğlu and Bernd Wollnik and Nurten Ayse Akarsu},
  journal={American journal of human genetics},
  year={2010},
  volume={86 5},
  pages={789-96}
}
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 12q21. In one of the families, three siblings were affected, and CNV analysis of the… CONTINUE READING
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