Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that ad...

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Detalles Bibliográficos
Autores principales: Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770791/
https://www.ncbi.nlm.nih.gov/pubmed/31438591
http://dx.doi.org/10.3390/genes10090631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770791/
https://www.ncbi.nlm.nih.gov/pubmed/31438591
http://dx.doi.org/10.3390/genes10090631

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