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Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
Vodopiutz, Julia; Steurer, Lisa-Maria; Haufler, Florentina; Laccone, Franco; Garczarczyk-Asim, Dorota; Hilkenmeier, Matthias; Steinbauer, Philipp; Janecke, Andreas R.
Afiliación
  • Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
  • Steurer LM; Vienna Bone and Growth Center, 1130 Vienna, Austria.
  • Haufler F; Vienna Bone and Growth Center, 1130 Vienna, Austria.
  • Laccone F; Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
  • Garczarczyk-Asim D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
  • Hilkenmeier M; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
  • Steinbauer P; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Genes (Basel) ; 14(4)2023 04 07.
Article en En | MEDLINE | ID: mdl-37107635
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Austria
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Austria