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Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.
Zhao, Tingting; Genchev, Georgi Z; Wu, Shengnan; Yu, Guangjun; Lu, Hui; Feng, Jincai.
Affiliation
  • Zhao T; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
  • Genchev GZ; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
  • Wu S; Bulgarian Institute for Genomics and Precision Medicine, Sofia, Bulgaria.
  • Yu G; SJTU-Yale Joint Center for Biostatistics, Department of Bioinformatics and Biostatistics, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
  • Lu H; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
  • Feng J; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Neurogenetics ; 22(3): 161-169, 2021 07.
Article in En | MEDLINE | ID: mdl-34128147
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Mutation, Missense / Genetic Association Studies / Hyperventilation / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2021 Type: Article Affiliation country: China
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Mutation, Missense / Genetic Association Studies / Hyperventilation / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2021 Type: Article Affiliation country: China