Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4-Reference-Cited by-同舟云学术

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Published:2012-11-28 Issue:7 Volume:21 Page:743-748
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Villavicencio-Lorini Pablo,Klopocki Eva,Trimborn Marc,Koll Randi,Mundlos Stefan,Horn Denise

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012240.pdf

Reference24 articles.

1. Doherty ES, Solomon BD, Lacbawan F : 2q37 Deletion Syndrome; in Pagon RA, Bird TD, Dolan CR, Stephens K, (eds): GeneReviews. Seattle WA, 1993–2011.

2. Falk RE, Casas KA : Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C Semin Med Genet 2007; 145C: 357–371.

3. Aldred MA, Sanford RO, Thomas NS et al: Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet 2004; 41: 433–439.

4. Chaabouni M, Le Merrer M, Raoul O et al: Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet 2006; 49: 255–263.

5. Williams SR, Aldred MA, Der Kaloustian VM et al: Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 2010; 87: 219–228.

Cited by 48 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. Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies;Human Genetics;2024-05-16

2. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature;Molecular Genetics & Genomic Medicine;2024-02

3. Deciphering the roles of subcellular distribution and interactions involving the MEF2 binding region, the ankyrin repeat binding motif and the catalytic site of HDAC4 in Drosophila neuronal morphogenesis;BMC Biology;2024-01-02

4. Epigenetic regulation of craniofacial development and disease;Birth Defects Research;2023-11-14

5. Dysregulated histone acetylation causes congenital diseases;Gene Reports;2023-06