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A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
Zhang, Yan; Lin, Cai Mei; Zheng, Xiao Lan; Abuduxikuer, Kuerbanjiang.
Affiliation
  • Zhang Y; Department of Neurology, Xiamen Children's Hospital, Fujian, China.
  • Lin CM; Department of Neurology, Xiamen Children's Hospital, Fujian, China.
  • Zheng XL; Department of Neurology, Xiamen Children's Hospital, Fujian, China.
  • Abuduxikuer K; Department of Hepatology, Children's Hospital of Fudan University, Shanghai, China.
Mol Genet Genomic Med ; 8(11): e1492, 2020 11.
Article in En | MEDLINE | ID: mdl-32926563
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Craniofacial Abnormalities / Corpus Callosum / NFI Transcription Factors / Megalencephaly Limits: Humans / Infant / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Craniofacial Abnormalities / Corpus Callosum / NFI Transcription Factors / Megalencephaly Limits: Humans / Infant / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States