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Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

机译：WNT10A无意义突变与纯合子患者的牙本质-牙本质-真皮异型增生在突变携带者中的轻度表现

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Krøigård Anne Bruun; Clemmensen Ole; Gjørup Hans; Hertz Jens Michael; Bygum Anette;
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年度 2016
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正文语种 eng
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1. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [J] . Anne Bruun Kr?ig?rd, Ole Clemmensen, Hans Gj?rup, BMC Dermatology . 2016,第1期

机译：WNT10A无意义突变与纯合子患者的牙本质-牙本质-真皮异型增生在突变携带者中的轻度表现
2. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia [J] . Adaimy L, Chouery E, Megarbane H, The American Journal of Human Genetics . 2007,第4期

机译：WNT10A中的突变与常染色体隐性外胚层发育不良有关：牙本质-马氏体-真皮发育异常
3. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. [J] . Bohring A, Stamm T, Spaich C The American Journal of Human Genetics . 2009,第1期

机译：WNT10A突变是导致杂合子中广泛的外胚层发育异常和性别偏向的表现模式的常见原因。
4. RUNX2/CBFA1 Mutations in Cleidocranial Dysplasia: Phenotypic and Structure/Function Correlations [C] . Kim McBride, Dobrawa Napierala, Yuqing Chen, Falk Symposium . 2002

机译：Cleidocanial dysplasia中的Runx2 / CBFA1突变：表型和结构/功能相关性
5. Elucidating the role of Transient Receptor Potential Channel Vanilloid 4 (TRPV4) mutation on channel activity and chondrocyte function in metatropic dysplasia. [D] . Hurd, Lauren M. 2015

机译：阐明了短暂受体潜在通道香草酸4（TRPV4）突变在嗜异型发育异常中对通道活性和软骨细胞功能的作用。
6. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [O] . Anne Bruun Krøigård, Ole Clemmensen, Hans Gjørup, 2016

机译：WNT10A无意义突变与纯合子患者的牙本质-牙本质-真皮异型增生在突变携带者中的轻度表现
7. Odonto-onycho-dermal dysplasia in a patient homozygous for a nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [O] . 2016

机译：纯合患者无意义突变的牙本质-牙本质-真皮异型增生和突变携带者中表皮异型增生的轻度表现

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

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