Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

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Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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Whole exome sequencing identif ...... mperfecta and dentin disorders

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P1476

Whole exome sequencing identif ...... mperfecta and dentin disorders

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P2093

Aiqin Hu

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Buling Wu

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Cheng Huang

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Decheng Cai

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Fu Xiong

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Jun Xiong

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Leitao Zhang

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Ling Peng

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Meiyi Li

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Ting Lu

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P2860

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta

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s41368-018-0027-9

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scholarly article

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10.1038/S41368-018-0027-9

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English

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P478

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2018-09-03T00:00:00Z

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1106062571

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P698

30174330

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6119682

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