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Select item 98866691.

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

Caiyuan Chen, Jin Han, Jiaxin Xue, Ru Li, Guilan Chen, Xin Yang, Jiajie Tang, Fucheng Li, Dongzhi Li

Front Genet. 2023; 14: 1005624. Published online 2023 Jan 17. doi: 10.3389/fgene.2023.1005624

PMCID:: PMC9886669

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Select item 94593752.

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Jianlong Zhuang, Junyu Wang, Qi Luo, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Xinying Chen, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

Front Genet. 2022; 13: 964098. Published online 2022 Aug 26. doi: 10.3389/fgene.2022.964098

PMCID:: PMC9459375

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Select item 92367543.

A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype

Alexander J. Sandweiss, Shalinkumar Patel, Mohammad Y. Bader, Ranjit I. Kylat

J Pediatr Genet. 2022 Jun; 11(2): 144–146. Published online 2020 Aug 26. doi: 10.1055/s-0040-1715640

PMCID:: PMC9236754

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Select item 83915264.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children

Noémi Dahan-Oliel, Klaus Dieterich, Frank Rauch, Ghalib Bardai, Taylor N. Blondell, Anxhela Gjyshi Gustafson, Reggie Hamdy, Xenia Latypova, Kamran Shazand, Philip F. Giampietro, Harold van Bosse

Genes (Basel) 2021 Aug; 12(8): 1220. Published online 2021 Aug 6. doi: 10.3390/genes12081220

PMCID:: PMC8391526

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Select item 73054665.

Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor

Tahere Nazari, Ali Rashidi-Nezhad, Maziar Ganji, Zahra Rezaei, Saeed Talebi, Nasrin Ghasemi, Javad Tavakkoly Bazzaz

Int J Mol Cell Med. 2019 Autumn; 8(4): 258–269. doi: 10.22088/IJMCM.BUMS.8.4.258

PMCID:: PMC7305466

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Select item 65061406.

Lethal multiple pterygium syndrome

Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Rep. 2019; 12(5): e229045. Published online 2019 May 8. doi: 10.1136/bcr-2018-229045

PMCID:: PMC6506140

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Select item 50845887.

Lethal multiple pterygium syndrome

Tulika Joshi, Nazia Nagori Noor, Moolraj Kural, Amita Tripathi

J Family Med Prim Care. 2016 Apr-Jun; 5(2): 477–478. doi: 10.4103/2249-4863.192361

PMCID:: PMC5084588

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Select item 49168268.

Multiple pterygium syndrome: Challenge for anesthesiologist

P Sethi, PK Bhatia, N Gupta, K Singh

Saudi J Anaesth. 2016 Jul-Sep; 10(3): 350–352. doi: 10.4103/1658-354X.174901

PMCID:: PMC4916826

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Select item 48864579.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

Ariana Kariminejad, Navid Almadani, Atefeh Khoshaeen, Bjorn Olsson, Ali-Reza Moslemi, Homa Tajsharghi

BMC Genet. 2016; 17: 71. Published online 2016 May 31. doi: 10.1186/s12863-016-0382-5

PMCID:: PMC4886457

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Select item 477412110.

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum

Ariana Kariminejad, Siavash Ghaderi-Sohi, Hamid Hossein-Nejad Nedai, Vahid Varasteh, Ali-Reza Moslemi, Homa Tajsharghi

BMC Musculoskelet Disord. 2016; 17: 109. Published online 2016 Mar 1. doi: 10.1186/s12891-016-0947-5

PMCID:: PMC4774121

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Select item 457028511.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad

Am J Hum Genet. 2015 May 7; 96(5): 841–849. doi: 10.1016/j.ajhg.2015.04.004

PMCID:: PMC4570285

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Select item 427145012.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Arthur B McKie, Atif Alsaedi, Julie Vogt, Kyra E Stuurman, Marjan M Weiss, Hassan Shakeel, Louise Tee, Neil V Morgan, Peter G J Nikkels, Gijs van Haaften, Soo-Mi Park, Jasper J van der Smagt, Marianna Bugiani, Eamonn R Maher

Acta Neuropathol Commun. 2014; 2: 148. Published online 2014 Dec 5. doi: 10.1186/s40478-014-0148-0

PMCID:: PMC4271450

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Select item 351593813.

Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography

Fernanda S Barros, Edward Araujo Júnior, Liliam Cristine Rolo, Luciano Marcondes Machado Nardozza

J Clin Imaging Sci. 2012; 2: 65. Published online 2012 Oct 31. doi: 10.4103/2156-7514.103055

PMCID:: PMC3515938

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Select item 250413614.

Escobar Syndrome (Multiple Pterygium Syndrome) Associated with Thoracic Kyphoscoliosis, Lordoscoliosis, and Severe Restrictive Lung Disease: A Case Report

Christopher C. Dodson, Oheneba Boachie-Adjei

HSS J. 2005 Sep; 1(1): 35–39. Published online 2005 Sep 9. doi: 10.1007/s11420-005-0103-5

PMCID:: PMC2504136

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Select item 225397315.

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher

Am J Hum Genet. 2008 Jan 10; 82(1): 222–227. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.016

PMCID:: PMC2253973

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Select item 155949216.

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E. V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

Am J Hum Genet. 2006 Aug; 79(2): 390–395. Published online 2006 Jun 20. doi: 10.1086/506256