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Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
Huang, Wendi; Yang, Ying; Che, Fengyu; Wu, Haibin; Ma, Ying; Zhao, Yujuan.
Affiliation
  • Huang W; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China.
  • Yang Y; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
  • Che F; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
  • Wu H; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
  • Ma Y; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China.
  • Zhao Y; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China. zhaoyujuan69@163.com.
Neurogenetics ; 25(1): 27-31, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37930470
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Hand Deformities, Congenital / Clubfoot / Cleft Palate / Neurodevelopmental Disorders / Muscle Hypotonia Limits: Humans / Newborn Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Hand Deformities, Congenital / Clubfoot / Cleft Palate / Neurodevelopmental Disorders / Muscle Hypotonia Limits: Humans / Newborn Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Country of publication: