Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
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Identification of Prdm genes in human corneal endothelium.A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findingsNovel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeThe rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literaturePITX2 deficiency and associated human disease: insights from the zebrafish model.A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
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Q33745986-CBA2E329-3C70-4554-885B-5404E742A011Q33914630-0EEC8364-B65A-413E-9DBB-9F1C16010B00Q38659690-5BCDE5A4-B261-4B49-BE4A-185E4C0545E2Q41521516-8C9E1408-7811-42B0-8D2C-4A8881C1031EQ52673680-CAFA6860-7F45-4952-BC7B-A5D0ECE6569FQ52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9Q59257860-8C0AACD9-6B1B-4141-B763-3D4C2C3FED7A
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Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
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name
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@ast
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@en
type
label
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@ast
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@en
prefLabel
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@ast
Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@en
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Whole exome sequencing identif ...... with Axenfeld-Rieger syndrome.
@en
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Anneke I den Hollander
Raheel Qamar
Saemah Nuzhat Zafar
Shazia Micheal
Sorath Noorani Siddiqui
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P2888
P356
10.1007/S10048-015-0462-0
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2015-10-21T00:00:00Z