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March 30, 2026Prenatal Diagnosis0 citations

Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses

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PWPing WangSichuan UniversityYWYu WangTianjin University of Science and TechnologyJHJingjing HeGuangxi University

Abstract

Summary What is already known about this topic? What does this study add?

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Cite This Study

Wang et al. (2026) studied this question.

synapsesocial.com/papers/69c9c5c5f8fdd13afe0bde06https://doi.org/10.1002/pd.70128
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Fibronectin Type III-like Domains of Neurofascin-186 Protein Mediate Gliomedin Binding and Its Clustering at the Developing Nodes of Ranvier2011 · 41 citations
  2. 2Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants2022 · 2 citations
  3. 3Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )2017 · 22 citations
  4. 4The latest FADS : Functional analysis of GLDN patient variants and classification of GLDN ‐associated AMC as a type of viable fetal akinesia deformation sequence2020 · 8 citations
  5. 5Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis2016 · 67 citations