Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.
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A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findingsA Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literatureTwo New Insertion/Deletion Variants of the PITX2 Gene and their Effects on Growth Traits in Sheep.PITX2 deficiency and associated human disease: insights from the zebrafish model.
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Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
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Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
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type
label
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
@en
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
@nl
prefLabel
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
@en
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
@nl
P2093
P2860
P356
P1476
Identification of a novel fram ...... with Axenfeld-Rieger syndrome.
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P2093
Chong-fei Jin
Feng-wei Song
Hou-fa Yin
Jin-fu Yin
Su-juan Zhao
Xiao-yun Fang
P2860
P2888
P356
10.1631/JZUS.B1300053
P577
2014-01-01T00:00:00Z
P6179
1049507996