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Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
BACKGROUND: The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynth...
Autores principales: | Lorenz, Delia, Kress, Wolfram, Zaum, Ann-Kathrin, Speer, Christian P., Hebestreit, Helge |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243911/ https://www.ncbi.nlm.nih.gov/pubmed/34193099 http://dx.doi.org/10.1186/s12887-021-02767-0 |
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