Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3G...

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Detalles Bibliográficos
Autores principales: Bloor, Samuel, Giri, Dinesh, Didi, Mohammed, Senniappan, Senthil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727645/
https://www.ncbi.nlm.nih.gov/pubmed/29318063
http://dx.doi.org/10.1155/2017/3941483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727645/
https://www.ncbi.nlm.nih.gov/pubmed/29318063
http://dx.doi.org/10.1155/2017/3941483

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