HeterozygousDLX5nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families-Reference-Cited by-同舟云学术

HeterozygousDLX5nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

Published:2014-09-05 Issue:10 Volume:100 Page:764-771
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Sowińska-Seidler Anna¹,Badura-Stronka Magdalena¹,Latos-Bieleńska Anna¹²,Stronka Michał³,Jamsheer Aleksander¹²

Affiliation:

1. Department of Medical Genetics; Poznan University of Medical Sciences; Poland

2. NZOZ Center for Medical Genetics GENESIS; Poznan Poland

3. Transplantology, General and Vascular Surgery Unit; Heliodor Swiecicki Clinical Hospital at the Poznan University of Medical Sciences; Poland

Funder

Polish National Centre for Research and Development

Polish National Science Centre

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5;Acampora;Development,1999

2. Nonsense-mediated mRNA decay: terminating erroneous gene expression;Baker;Curr Opin Cell Biol,2004

3. The expanding panorama of split hand foot malformation;Basel;Am J Med Genet A,2006

4. Coding exons function as tissue-specific enhancers of nearby genes;Birnbaum;Genome Res,2012a

5. Functional characterization of tissue-specific enhancers in the DLX5/6 locus;Birnbaum;Hum Mol Genet,2012b

Cited by 16 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. A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus;Frontiers in Molecular Biosciences;2023-10-17

2. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes;Genes;2023-07-26

3. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly;Frontiers in Genetics;2023-04-13

4. Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes;European Journal of Medical Genetics;2019-12

5. Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development;The Journal of Hand Surgery;2019-05