Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study-Reference-Cited by-同舟云学术

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

Published:2021-01-11 Issue:4 Volume:185 Page:1216-1221
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gangfuß Andrea¹^ORCID,Yigit Gökhan²,Altmüller Janine³⁴,Nürnberg Peter³⁵,Czeschik Johanna Christina⁶,Wollnik Bernd²,Bögershausen Nina²,Burfeind Peter²,Wieczorek Dagmar⁶⁷,Kaiser Frank⁶,Roos Andreas¹,Kölbel Heike¹,Schara‐Schmidt Ulrike¹,Kuechler Alma⁶

Affiliation:

1. Department of Neuropediatrics, University Hospital Essen University of Duisburg‐Essen Essen Germany

2. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

3. Cologne Center for Genomics University of Cologne Cologne Germany

4. Institute of Human Genetics University of Cologne Cologne Germany

5. Center for Molecular Medicine Cologne University of Cologne Cologne Germany

6. Institute of Human Genetics, University Hospital Essen University of Duisburg – Essen Essen Germany

7. Institute of Human Genetics, University Hospital Düsseldorf Heinrich‐Heine University Düsseldorf Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62070

Reference13 articles.

1. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

2. Further evidence for the possible role ofMEIS2in the development of cleft palate and cardiac septum

3. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

4. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

5. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

Cited by 11 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. The evolutionary ancient MEIS transcription factors actuate lineage-specific transcription to establish cardiac fate;2024-07-19

2. Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2;eLife;2024-02-22

3. Touch receptor end-organ innervation and function requires sensory neuron expression of the transcription factor Meis2;ELIFE;2024-02-05

4. Touch receptor end-organ innervation and function requires sensory neuron expression of the transcription factor Meis2;2024-02-05

5. Café-au-lait Spots and Cleft Palate: Not a Chance Association;The Cleft Palate Craniofacial Journal;2023-07-14