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1 t occur with aniridia or as part of Axenfeld-Rieger syndrome.
2 2 gene dose plays a central role in Axenfeld-Rieger syndrome.
3 in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
4 ally explain the phenotypic variation within Rieger syndrome.
5 letal abnormalities observed in the Axenfeld-Rieger syndrome.
6 llele have eye abnormalities consistent with Rieger syndrome.
7 isms underlying the developmental defects in Rieger syndrome.
8 the Pitx2 homeobox gene have been linked to Rieger syndrome.
9 a panel of seven unrelated individuals with Rieger syndrome.
10 , mutations have been identified in Axenfeld-Rieger syndrome, a disorder characterized by anterior se
11 main transcription factor that is mutated in Rieger syndrome, a haploinsufficiency disorder affecting
12 tified as the gene responsible for the human Rieger syndrome, an autosomal dominant condition that ca
16 he human Ptx2 homologue a candidate gene for Rieger syndrome, an autosomal-dominant disorder with var
18 umbilical region development as evidenced by Rieger syndrome and iris hypoplasia phenotypes, resultin
19 protein is mutated in patients with Axenfeld-Rieger syndrome and is involved in the development of mu
20 es a better understanding of the etiology of Rieger syndrome and may extend to other PITX-sensitive d
21 in transcription factor that is defective in Rieger syndrome and shows a striking leftward developmen
22 inal PITX2 mutation associated with Axenfeld-Rieger syndrome (ARS) demonstrates reduced phosphorylati
25 Mutations in PITX2 associated with Axenfeld-Rieger syndrome (ARS) provided the first link of this ho
26 ations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, an
29 region where the autosomal dominant disorder Rieger syndrome has been previously mapped by linkage.
30 The pitx2 homeobox gene, which is mutated in Rieger syndrome, has been proposed to be the effector mo
31 red-related homeobox gene that is mutated in Rieger syndrome I, is the earliest known marker of oral
32 1 missense mutation observed in the Axenfeld-Rieger syndrome impairs Gli2-Foxc1 association as well a
42 ted with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents cli
43 tations were detectable in over 100 cases of Rieger syndrome or in individuals with related ocular di
46 omeobox gene involved in the pathogenesis of Rieger syndrome, RIEG1 , and its mouse homolog, Rieg1 .
47 ed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations
48 is the gene mutated in the haploinsufficient Rieger Syndrome type 1 that includes dental, ocular and
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