Embryonic geometry underlies phenotypic variation in decanalized conditions
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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ژورنال
عنوان ژورنال: eLife
سال: 2020
ISSN: 2050-084X
DOI: 10.7554/elife.47380