ALG1-CDG: A Patient with a Mild Phenotype and Literature Review

Abstract ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thri...

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Veröffentlicht in:	Molecular syndromology 2022-02, Vol.13 (1), p.69-74
Hauptverfasser:	Öncül, Ümmühan, Kose, Engin, Eminoğlu, Fatma Tuba
Format:	Artikel
Sprache:	eng
Schlagworte:	Novel Insights from Clinical Practice
Online-Zugang:	Volltext
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