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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
Zeynep Tümer
, Daniella Bach-Holm
159
Citations (Scopus)
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Dive into the research topics of 'Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations'. Together they form a unique fingerprint.
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Keyphrases
Axenfeld-Rieger Spectrum
100%
Axenfeld-Rieger Syndrome
100%
FOXC1
100%
Anterior Eye Segment
25%
Congential
25%
Biochemistry, Genetics and Molecular Biology
PITX2
100%
Genotyping
33%
Genetic Heterogeneity
33%
Autosomal Dominant Inheritance
33%
Gene Mutation
33%