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Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype

As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell-cell and cell-matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi-system disorders, often most prominently affecting...

詳細記述

保存先:
書誌詳細
出版年:Am J Med Genet A
主要な著者: von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4384644/
https://ncbi.nlm.nih.gov/pubmed/24668659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36487
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