Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders
نویسندگان
چکیده
منابع مشابه
Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.
The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and Axenfeld-Rieger syndrome (ARS) are characterized by maldevelopment of the anterior segment of the eye associated with an increased risk of early-onset glaucoma. IH, IGDS and ARS are allelic disorders, as all three can result from mutations of the transcription factor PITX2. IH is the mildest of the th...
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15 صفحه اولExpanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
PURPOSE Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. METHODS The patients were examined for FOXC1 and PITX2 copy number changes and mutati...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.14.2131