Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
about
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
P2860
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
description
2016 nî lūn-bûn
@nan
2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Functional validation of novel ...... panding the disease phenotype.
@ast
Functional validation of novel ...... panding the disease phenotype.
@en
type
label
Functional validation of novel ...... panding the disease phenotype.
@ast
Functional validation of novel ...... panding the disease phenotype.
@en
prefLabel
Functional validation of novel ...... panding the disease phenotype.
@ast
Functional validation of novel ...... panding the disease phenotype.
@en
P2093
P2860
P1433
P1476
Functional validation of novel ...... xpanding the disease phenotype
@en
P2093
Ashley Brazil
Carol Saunders
Florian Job
Howard Saal
Isabelle Thiffault
Katrin Hoffmann
Kazuyuki Sugahara
Laurie Smith
Margaret I Gibson
Melanie Patterson
P2860
P2888
P356
10.1186/S12881-016-0344-9
P577
2016-11-21T00:00:00Z
P6179
1030162982