Marden-Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb03701.x/fullpdf
Reference5 articles.
1. Marden-Walker phenotype: spectrum of variability in three infants;Ramer;Am J Med Genet,1993
2. Marden-Walker syndrome: case report, literature review and nosologic discussion;Schrander-Stumpel;Clin Genet.,1993
3. The distal arthrogryposis: delineation of new entities-review and nosologic discussion;Hall;Am J Med Genet,1982
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1. Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome;American Journal of Medical Genetics Part A;2020-12-27
2. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis;The American Journal of Human Genetics;2016-11
3. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders;American Journal of Medical Genetics Part A;2016-07-04
4. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5;The American Journal of Human Genetics;2014-05
5. Arthrogryposes (Multiple Congenital Contractures);Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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