Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

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. Us...

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Veröffentlicht in:	American journal of human genetics 2010-05, Vol.86 (5), p.789-796
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosomes Cleft Palate - genetics Ear - abnormalities Face - abnormalities Fundamental and applied biological sciences. Psychology Gene expression General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Genomics Genotype & phenotype Homeodomain Proteins - genetics Homozygote Humans Malformations of the eye Medical genetics Medical sciences Microphthalmos - genetics Molecular and cellular biology Musculoskeletal Abnormalities - genetics Mutation Ophthalmology Phenotype Proteins RNA Splice Sites - genetics Sequence Deletion - genetics
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