PMC Articles for MedGen (Select 413001) - PMC

Select item 74667871.

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang

BMC Musculoskelet Disord. 2020; 21: 588. Published online 2020 Sep 1. doi: 10.1186/s12891-020-03616-4

PMCID:: PMC7466787

Abstract Article PDF–2.3M

Select item 73043632.

Allelic heterogeneity of Proteus syndrome

Anna Buser, Marjorie J. Lindhurst, Hannah C. Kondolf, Miranda R. Yourick, Kim M. Keppler-Noreuil, Julie C. Sapp, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005181. doi: 10.1101/mcs.a005181

PMCID:: PMC7304363

Abstract Article PDF–3.7M

Select item 72782013.

A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang, Songmei Geng

BMC Med Genet. 2020; 21: 126. Published online 2020 Jun 8. doi: 10.1186/s12881-020-01060-8

PMCID:: PMC7278201

Abstract Article PDF–1.0M

Select item 48803404.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo

PLoS One. 2016; 11(5): e0155180. Published online 2016 May 25. doi: 10.1371/journal.pone.0155180

PMCID:: PMC4880340

Abstract Article PDF–1.5M

Select item 30973915.

New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

Cathy A. Stevens, Ralph S. Lachman

Am J Med Genet A. Author manuscript; available in PMC 2011 Aug 1.

Published in final edited form as: Am J Med Genet A. 2010 Aug; 152A(8): 1915–1918. doi: 10.1002/ajmg.a.33488

PMCID:: PMC3097391

Abstract Article PDF–2.1M

Select item 27905736.

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke

Am J Hum Genet. 2009 Dec 11; 85(6): 873–882. doi: 10.1016/j.ajhg.2009.11.010

PMCID:: PMC2790573

Abstract Article PDF–1.3M

Select item 16858037.

Duplication 9q34 syndrome.

P W Allderdice, B Eales, H Onyett, W Sprague, K Henderson, P A Lefeuvre, G Pal

Am J Hum Genet. 1983 Sep; 35(5): 1005–1019.

PMCID:: PMC1685803

Summary Page Browse PDF–2.5M

Select item 10500288.

Congenital contractural arachnodactyly (Beals syndrome).

D Viljoen

J Med Genet. 1994 Aug; 31(8): 640–643. doi: 10.1136/jmg.31.8.640

PMCID:: PMC1050028

Summary Page Browse PDF–774K

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