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Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome | BMC Genomic Data | Full Text
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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit - ScienceDirect
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. - Abstract - Europe PMC
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Neuromotor synapses in Escobar syndrome - Robinson - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
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Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine - ScienceDirect
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Escobar Syndrome (Multiple Pterygium Syndrome) Associated with Thoracic Kyphoscoliosis, Lordoscoliosis, and Severe Restrictive Lung Disease: A Case Report - Christopher C. Dodson, Oheneba Boachie-Adjei, 2005
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Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome - ScienceDirect
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Escobar Syndrome—An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up | Semantic Scholar
Radiological imaging and photos of patients with Escobar syndrome: (A)... | Download Scientific Diagram
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