Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

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作者： Alla Nikolaevna,Semyachkina ^[1] ; Ekaterina Alexandrovna,Nikolaeva ^[1] ; Nailya Mansurovna,Galeeva ^[2] ; Alexander Vladimirovich,Polyakov ^[2] ; Maria Andreevna,Kurnikova ^[3] ; Vera Аlexandrovna,Belova ^[4] ; Irina Valerievna,Shulyakova ^[1] ; Ilya Sergeevich,Dantsev ^[1] ; Goar Vladimirovna,Dzhivanshiryan ^[1]

作者单位： Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation. ^[1] Research Centre for Medical Genetics, Moscow, Russian Federation. ^[2] Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation. ^[3] Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, 117997, Russian Federation. ^[4]

关键词 FKBP14 gene c.362dupC duplication children clinical findings monogenic connective tissue disorders rare (orphan) disorders

主题词青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);Ehlers-Danlos综合征(Ehlers-Danlos Syndrome);外显子(Exons);人类(Humans);突变(Mutation);肽基脯氨酰异构酶(Peptidylprolyl Isomerase);表型(Phenotype)

DOI 10.12688/f1000research.52268.1

PMID 34504686

发布时间 2022-05-31

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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

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