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...

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Detalles Bibliográficos
Autores principales: Lorenz, Delia, Kress, Wolfram, Zaum, Ann-Kathrin, Speer, Christian P., Hebestreit, Helge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
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

Internet

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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