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Article

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

American journal of medical genetics. Part A - 1 Oct 2020

Mis Emily K, Al-Ali Samir, Ji Weizhen, Spencer-Manzon Michele, Konstantino Monica, Khokha Mustafa K, Jeffries Lauren, Lakhani Saquib A

Abstract excerpt

Recessive variants in the GLDN gene, which encodes the gliomedin protein and is involved in nervous system development, have recently been associated with Arthrogryposis Multiplex Congenita (AMC), a heterogenous condition characterized by congenital contractures of more than one joint. Two cohorts of patients with GLDN-associated AMC have previously been described, evolving the understanding of the condition from...

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PMID: 32812332
DOI: 10.1002/ajmg.a.61783

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