Literature DB >> 28452798

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Allan Bayat1, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg.   

Abstract

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Year:  2017        PMID： 28452798     DOI： 10.1097/MCD.0000000000000182

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Authors:  Tomoko Uehara; Rikako Sanuki; Yurie Ogura; Atsushi Yokoyama; Takeshi Yoshida; Hiroshi Futagawa; Hiroshi Yoshihashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kohei Matsubara; Hiromi Hirata; Kenjiro Kosaki; Toshiyuki Takano-Shimizu
Journal:  Am J Med Genet A       Date:  2021-05-11       Impact factor: 2.802

2.  An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Authors:  Jieyi Chen; Ping Zhang; Meifang Peng; Bo Liu; Xiao Wang; Siyuan Du; Yao Lu; Xiongzheng Mu; Yulan Lu; Sijia Wang; Yingzhi Wu
Journal:  Front Genet       Date:  2022-09-02       Impact factor: 4.772

3.  A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.

Authors:  Yan Zhang; Cai Mei Lin; Xiao Lan Zheng; Kuerbanjiang Abuduxikuer
Journal:  Mol Genet Genomic Med       Date:  2020-09-14       Impact factor: 2.183
  3 in total

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