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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
Semyachkina, Alla Nikolaevna; Nikolaeva, Ekaterina Alexandrovna; Galeeva, Nailya Mansurovna; Polyakov, Alexander Vladimirovich; Kurnikova, Maria Andreevna; Belova, Vera Аlexandrovna; Shulyakova, Irina Valerievna; Dantsev, Ilya Sergeevich; Dzhivanshiryan, Goar Vladimirovna.
Afiliação
  • Semyachkina AN; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
  • Nikolaeva EA; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
  • Galeeva NM; Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Polyakov AV; Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Kurnikova MA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation.
  • Belova VА; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, 117997, Russian Federation.
  • Shulyakova IV; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
  • Dantsev IS; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
  • Dzhivanshiryan GV; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation.
F1000Res ; 10: 502, 2021.
Article em En | MEDLINE | ID: mdl-34504686
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos Tipo de estudo: Diagnostic_studies / Guideline Limite: Adolescent / Child / Child, preschool / Humans Idioma: En Revista: F1000Res Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos Tipo de estudo: Diagnostic_studies / Guideline Limite: Adolescent / Child / Child, preschool / Humans Idioma: En Revista: F1000Res Ano de publicação: 2021 Tipo de documento: Article