Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. / Tümer, Zeynep; Bach-Holm, Daniella.
I: European Journal of Human Genetics, Bind 17, Nr. 12, 12.2009, s. 1527-39.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
AU - Tümer, Zeynep
AU - Bach-Holm, Daniella
PY - 2009/12
Y1 - 2009/12
N2 - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.
AB - Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.
KW - Abnormalities, Multiple
KW - Animals
KW - Anterior Eye Segment
KW - Forkhead Transcription Factors
KW - Homeodomain Proteins
KW - Humans
KW - Mutation
KW - Syndrome
KW - Transcription Factors
U2 - 10.1038/ejhg.2009.93
DO - 10.1038/ejhg.2009.93
M3 - Journal article
C2 - 19513095
VL - 17
SP - 1527
EP - 1539
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 12
ER -
ID: 32633693