Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

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作者： Jamsheer, Aleksander ^[1] ; Sowinska-Seidler, Anna ^[2] ; Olech, Ewelina M. ^[3] ; Socha, Magdalena ^[4] ; Kozlowski, Kazimierz ; Pyrkosz, Antoni ; Trzeciak, Tomasz ; Materna-Kiryluk, Anna ; Latos-Bielenska, Anna

作者单位： Med Univ Silesia, Dept Gen & Mol Biol & Genet, Katowice, Poland ^[1] Poznan Univ Med Sci, Dept Orthoped & Traumatol, PL-60806 Poznan, Poland ^[2] Childrens Hosp Westmead, Dept Med Imaging, Sydney, NSW, Australia ^[3] Poznan Univ Med Sci, Dept Med Genet, Rokietnicka 8 St, PL-60806 Poznan, Poland ^[4]

发布时间 2017-04-06

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Journal of human genetics

2016年61卷5期

457-461页

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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Journal of human genetics

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Journal of human genetics

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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Journal of human genetics

相似文献

Journal of human genetics

相关期刊

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