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Select item 16985661.

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad

Am J Hum Genet. 2006 Nov; 79(5): 935–941. Published online 2006 Sep 26. doi: 10.1086/508433

PMCID:: PMC1698566

Abstract Article PDF–2.3M

Select item 42164952.

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

Rajashree S. Nandagopalan, Shubha R. Phadke, Ashwin B. Dalal, Prajnya Ranganath

Indian J Med Res. 2014 Aug; 140(2): 221–226.

PMCID:: PMC4216495

Abstract Article PDF–1.7M

Select item 40701003.

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Marios Kambouris, Rachid C Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A Curmi, Hatem El-Shanti

Orphanet J Rare Dis. 2014; 9: 80. Published online 2014 Jun 7. doi: 10.1186/1750-1172-9-80

PMCID:: PMC4070100

Abstract Article PDF–1.2M

Select item 38956424.

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort

Sara Ciullini Mannurita, Marina Vignoli, Lucia Bianchi, Anuela Kondi, Valeria Gerloni, Luciana Breda, Rebecca ten Cate, Maria Alessio, Angelo Ravelli, Fernanda Falcini, Eleonora Gambineri

Eur J Hum Genet. 2014 Feb; 22(2): 197–201. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.123

PMCID:: PMC3895642

Abstract Article PDF–678K

Select item 36530945.

First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome

Jung Min Ko, In-Ho Choi, Goo-Hyun Baek, Kee-Won Kim

J Korean Med Sci. 2013 May; 28(5): 780–783. Published online 2013 May 2. doi: 10.3346/jkms.2013.28.5.780

PMCID:: PMC3653094

Abstract Article PDF–1.0M

Select item 36115186.

Scoliosis in Gordon's syndrome

A. Wild, N. Schillians, M. Kumar, S. Mehdian

Eur Spine J. 2001 Oct; 10(5): 458–460. Published online 2001 Mar 20. doi: 10.1007/s005860100265

PMCID:: PMC3611518

Summary PDF–59K

Select item 31604627.

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Celia L. Gregson, Peter Hollingworth, Martin Williams, Kirsten A. Petrie, Alex N. Bullock, Matthew A. Brown, Jon H. Tobias, James T. Triffitt

Bone. Author manuscript; available in PMC 2011 Aug 23.

Published in final edited form as: Bone. 2011 Mar 1; 48(3): 654–658. Published online 2010 Oct 29. doi: 10.1016/j.bone.2010.10.164

PMCID:: PMC3160462

Abstract Article PDF–1.1M

Select item 31551898.

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska-Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina

Am J Hum Genet. 2011 Aug 12; 89(2): 295–301. doi: 10.1016/j.ajhg.2011.06.012

PMCID:: PMC3155189

Abstract Article PDF–742K

Select item 25619399.

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

Am J Hum Genet. 2008 Oct 10; 83(4): 529–534. Published online 2008 Oct 3. doi: 10.1016/j.ajhg.2008.09.013

PMCID:: PMC2561939

Abstract Article PDF–692K

Select item 242278210.

Familial cerebral palsy associated with normal intelligence.

N. J. Wild, L. Rosenbloom

Postgrad Med J. 1986 Sep; 62(731): 827–830. doi: 10.1136/pgmj.62.731.827

PMCID:: PMC2422782

Summary Page Browse PDF–753K

Select item 431406811.

Anti-Lubricin Monoclonal Antibodies Created Using Lubricin-Knockout Mice Immunodetect Lubricin in Several Species and in Patients with Healthy and Diseased Joints

Minrong Ai, Yajun Cui, Man-Sun Sy, David M. Lee, Ling Xiu Zhang, Katherine M. Larson, Kyle C. Kurek, Gregory D. Jay, Matthew L. Warman

PLoS One. 2015; 10(2): e0116237. Published online 2015 Feb 2. doi: 10.1371/journal.pone.0116237

PMCID:: PMC4314068

Abstract Article PDF–4.3M

Select item 152493112.

Congenital contractural arachnodactyly (Beals syndrome)

Ergül Tunçbilek, Yasemin Alanay

Orphanet J Rare Dis. 2006; 1: 20. Published online 2006 Jun 1. doi: 10.1186/1750-1172-1-20

PMCID:: PMC1524931

Abstract Article PDF–182K

Select item 105002813.

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

Select item 104964314.

Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

M A Patton, K D McDermot, B D Lake, M Baraitser

J Med Genet. 1986 Jun; 23(3): 268–271. doi: 10.1136/jmg.23.3.268

PMCID:: PMC1049643

Summary Page Browse PDF–857K

Select item 104901415.

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome

M Baraitser, J Burn, J Fixsen

J Med Genet. 1983 Apr; 20(2): 125–127. doi: 10.1136/jmg.20.2.125

PMCID:: PMC1049014

Summary Page Browse PDF–934K

Select item 104881716.

A new camptodactyly syndrome

M Baraitser

J Med Genet. 1982 Feb; 19(1): 40–43. doi: 10.1136/jmg.19.1.40

PMCID:: PMC1048817

Summary Page Browse PDF–949K

Select item 104879317.

Distal symphalangism associated with camptodactyly.

S Ohdo, Y Yamauchi, K Hayakawa

J Med Genet. 1981 Dec; 18(6): 456–458. doi: 10.1136/jmg.18.6.456

PMCID:: PMC1048793

Summary Page Browse PDF–492K

Select item 101337318.

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

R M Goodman, M B Katznelson, M Hertz, A Katznelson

J Med Genet. 1976 Apr; 13(2): 136–141. doi: 10.1136/jmg.13.2.136

PMCID:: PMC1013373

Summary Page Browse PDF–1.8M

Select item 101274119.

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

F Halal, F C Fraser

J Med Genet. 1979 Apr; 16(2): 149–150. doi: 10.1136/jmg.16.2.149

PMCID:: PMC1012741

Summary Page Browse PDF–447K

Select item 590240220.

Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome

Saliha Yilmaz, Dilek Uludağ Alkaya, Özgür Kasapçopur, Kenan Barut, Ekin S. Akdemir, Cemre Celen, Mark W. Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Günel, Beyhan Tüysüz

Mol Genet Genomic Med. 2018 Mar; 6(2): 230–248. Published online 2018 Feb 4. doi: 10.1002/mgg3.364

PMCID:: PMC5902402

Abstract Article PDF–8.4M

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