A novel mutation in PRDM5 in brittle cornea syndrome

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2012-02, Vol.81 (2), p.198-199
Hauptverfasser:	Aldahmesh, MA, Mohamed, JY, Alkuraya, FS
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child, Preschool DNA-Binding Proteins - genetics Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Eye Abnormalities Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Homozygote Humans Indexing in process Joint Instability - congenital Medical genetics Medical sciences Molecular and cellular biology Mutation Skin Abnormalities Transcription Factors - genetics
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