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MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1

Known as: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3, GPIBD3, MCAHS1 
National Institutes of Health

Related topics

Related topics

26 relations
AmblyopiaAnus, ImperforateAtrial Septal DefectsAutosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].
  • Y. F. XuN. Li J. Wang
  • Zhonghua er ke za zhi = Chinese journal of…
  • 2017
  • Corpus ID: 24761526
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies… 
2017
2017
PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis
ABSTRACT Quality control of proteins in the endoplasmic reticulum (ER) is essential for ensuring the integrity of secretory… 
2016
2016
A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family
Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple… 
2016
2016
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity
Fryns syndrome (MIM# 229850) is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the… 
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