ALX4 dysfunction disrupts craniofacial and epidermal development

Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterized by total alopecia, a large skull...

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Veröffentlicht in:	Human molecular genetics 2009-11, Vol.18 (22), p.4357-4366
Hauptverfasser:	Kayserili, Hulya, Uz, Elif, Niessen, Carien, Vargel, Ibrahim, Alanay, Yasemin, Tuncbilek, Gokhan, Yigit, Gokhan, Uyguner, Oya, Candan, Sukru, Okur, Hamza, Kaygin, Serkan, Balci, Sevim, Mavili, Emin, Alikasifoglu, Mehmet, Haase, Ingo, Wollnik, Bernd, Akarsu, Nurten Ayse
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child Child, Preschool Chromosome Mapping Craniofacial Dysostosis - genetics Craniofacial Dysostosis - metabolism DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Epidermis - growth & development Epidermis - metabolism Facial Bones - growth & development Facial Bones - metabolism Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Humans Infant Male Molecular and cellular biology Mutation Transcription Factors - genetics Transcription Factors - metabolism
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