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Items: 10

Select item 109859961.

Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei, Shenglin Wang

Orphanet J Rare Dis. 2024; 19: 141. Published online 2024 Apr 1. doi: 10.1186/s13023-024-03134-9

PMCID:: PMC10985996

Abstract Article PDF–1.5M

Select item 103690542.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam

Front Endocrinol (Lausanne) 2023; 14: 1212729. Published online 2023 Jul 12. doi: 10.3389/fendo.2023.1212729

PMCID:: PMC10369054

Abstract Article PDF–1.3M

Select item 76058923.

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Gulcin Akinci, Haluk Topaloglu, Baris Akinci, Huseyin Onay, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir Atik, Abhimanyu Garg

Eur J Med Genet. Author manuscript; available in PMC 2020 Nov 2.

Published in final edited form as: Eur J Med Genet. 2016 Jun; 59(6-7): 320–324. Published online 2016 May 7. doi: 10.1016/j.ejmg.2016.05.001

PMCID:: PMC7605892

Abstract Article PDF–527K

Select item 63441934.

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study

Ali Al Kaissi, Sergey Ryabykh, Olga M. Pavlova, Polina Ochirova, Vladimir Kenis, Farid Ben Chehida, Rudolf Ganger, Franz Grill, Susanne Gerit Kircher

Medicine (Baltimore) 2019 Jan; 98(1): e13780. Published online 2019 Jan 4. doi: 10.1097/MD.0000000000013780

PMCID:: PMC6344193

Abstract Article PDF–668K

Select item 48581045.

Atlanto‐Axial Malformation and Instability in Dogs with Pituitary Dwarfism due to an LHX3 Mutation

A.M.W.Y. Voorbij, B.P. Meij, L.W.L. van Bruggen, G.C.M. Grinwis, Q.E.M. Stassen, H.S. Kooistra

J Vet Intern Med. 2015 Jan-Feb; 29(1): 207–213. Published online 2015 Jan 14. doi: 10.1111/jvim.12523

PMCID:: PMC4858104

Abstract Article PDF–734K

Select item 43846446.

Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype

Julia E. von Oettingen, Wen-Hann Tan, Andrew Dauber

Am J Med Genet A. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Am J Med Genet A. 2014 Jun; 0(6): 1580–1586. Published online 2014 Mar 25. doi: 10.1002/ajmg.a.36487

PMCID:: PMC4384644

Abstract Article PDF–370K

Select item 38468527.

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora

BMC Med Genet. 2013; 14: 89. Published online 2013 Sep 11. doi: 10.1186/1471-2350-14-89

PMCID:: PMC3846852

Abstract Article PDF–1.4M

Select item 37551028.

Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA

C.J. Hendriksz, P. Harmatz, M. Beck, S. Jones, T. Wood, R. Lachman, C.G. Gravance, T. Orii, S. Tomatsu

Mol Genet Metab. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(0): 54–64. Published online 2013 Apr 10. doi: 10.1016/j.ymgme.2013.04.002

PMCID:: PMC3755102

Abstract Article PDF–1.1M

Select item 29300699.

Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations

Savitha Shastry, Mauricio R. Delgado, Eray Dirik, Mehmet Turkmen, Anil K. Agarwal, Abhimanyu Garg

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

Published in final edited form as: Am J Med Genet A. 2010 Sep; 152A(9): 2245–2253. doi: 10.1002/ajmg.a.33578

PMCID:: PMC2930069

Abstract Article PDF–945K

Select item 283738610.

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Anna Rajab, Volker Straub, Liza J. McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke

PLoS Genet. 2010 Mar; 6(3): e1000874. Published online 2010 Mar 12. doi: 10.1371/journal.pgen.1000874