De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum-Reference-Cited by-同舟云学术

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Published:2014-10-19 Issue:1 Volume:134 Page:97-109
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kuechler Alma,Willemsen Marjolein H.,Albrecht Beate,Bacino Carlos A.,Bartholomew Dennis W.,van Bokhoven Hans,van den Boogaard Marie Jose H.,Bramswig Nuria,Büttner Christian,Cremer Kirsten,Czeschik Johanna Christina,Engels Hartmut,van Gassen Koen,Graf Elisabeth,van Haelst Mieke,He Weimin,Hogue Jacob S.,Kempers Marlies,Koolen David,Monroe Glen,de Munnik Sonja,Pastore Matthew,Reis André,Reuter Miriam S.,Tegay David H.,Veltman Joris,Visser Gepke,van Hasselt Peter,Smeets Eric E. J.,Vissers Lisenka,Wieland Thomas,Wissink Willemijn,Yntema Helger,Zink Alexander Michael,Strom Tim M.,Lüdecke Hermann-Josef,Kleefstra Tjitske,Wieczorek Dagmar

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-014-1498-1.pdf

Reference19 articles.

1. Campos VE, Du M, Li Y (2004) Increased seizure susceptibility and cortical malformation in β-catenin mutant mice. Biochem Biophys Res Commun 320(2):606–614

2. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929

3. Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P (2014) A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A 164:1571–1575

4. Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP (2009) DECIPHER: database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84:524–533

5. Flore LA, Milunsky JM (2012) Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol 19:173–180

Cited by 99 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Uncertainties Regarding Cerebral Palsy Diagnosis;Neurology Clinical Practice;2024-12

2. Boolean Modeling of Biological Network Applied to Protein–Protein Interaction Network of Autism Patients;Biology;2024-08-10

3. Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome;EMBO Molecular Medicine;2024-08-05

4. DDX3X syndrome: From clinical phenotypes to biological insights;Journal of Neurochemistry;2024-07-08

5. Skeletal abnormalities, pediatric-onset severe osteoporosis, and multiple fragility fractures in a patient with a novel CTNNB1 de novo variant;Bone Reports;2024-06