Novel mutation in SP2 in a Chinese pedigree with Neural tube defects-Reference-Cited by-同舟云学术

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Novel mutation in SP2 in a Chinese pedigree with Neural tube defects

Published:2018-05-31 Issue:10 Volume:24 Page:978-980
ISSN:1755-5930
Container-title:CNS Neuroscience & Therapeutics
language:en
Short-container-title:CNS Neurosci Ther

Author:

Liu Bei-Hong¹²,Wang Jing³,Li Cong-Min⁴,Qi Lin⁵,Song Yan-Hong⁵,Pan Hong²,Li Teng-Yan²,Wang Bin-Bin¹²^ORCID

Affiliation:

1. Graduate School of Peking Union Medical College; Beijing China

2. Center for Genetics; National Research Institute of Family Planning; Beijing China

3. Department of Medical Genetics and Developmental Biology; School of Basic Medical Sciences; Capital Medical University; Beijing China

4. Zhengzhou First People's Hospital; Henan China

5. Children's Hospital Affiliated to Zhengzhou University; Henan China

Funder

National Infrastructure of Chinese Genetic Resources

National Key Research and Development Program of China

Publisher

Wiley

Subject

Pharmacology (medical),Physiology (medical),Psychiatry and Mental health,Pharmacology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cns.12988/fullpdf

Reference11 articles.

1. Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: a genome-wide DNA methylation analysis;Wang;Epigenetics,2017

2. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects;Harris;Birth Defects Res A Clin Mol Teratol,2007

3. Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity;Robin;Hum Mol Genet,1994

4. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome;Muenke;Nat Genet,1994

5. Upper extremity anomalies in Pfeiffer syndrome and mutational correlations;Cerrato;Plast Reconstr Surg,2014

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