Familial multiple pterygium syndrome (MPS) is not associated withCHRNG gene mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference3 articles.
1. Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
2. Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
3. Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?
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1. The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children;Genes;2021-08-06
2. Multiple Pterygium Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
3. Multiple Pterygium Syndrome;Atlas of Genetic Diagnosis and Counseling;2016
4. Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene;Journal of Pediatric Orthopaedics B;2015-05
5. Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome;Clinical Dysmorphology;2013-04
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