Science Translational Medicine：唐氏综合症心脏缺陷的基因

https://www.ebiotrade.com/newsf/2024-1/20240125044933911.htm

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• 1. Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

  Rosangela Ferese,Monica Bonetti,Federica Consoli,Valentina Guida,Anna Sarkozy,Francesca Romana Lepri,Paolo Versacci,Stefano Gambardella,Giulio Calcagni,Katia Margiotti,Francesca Piceci Sparascio,Hossein Hozhabri,Tommaso Mazza,Maria Cristina Digilio,Bruno Dallapiccola,Marco Tartaglia,Bruno Marino,Jeroen den Hertog,Alessandro De Luca

  IRCCS Neuromed, Localita` Camerelle, 86077, Pozzilli, Italy.

  Hum Mutat (P 1098-1004 E 1059-7794) H指数：146 2018 年 39 卷 10 期 1428-1441 页

  PMID：30007050 相似文献

  文摘 DOI链接 Ovid Technologies, Inc.Wiley

• 2. "Everybody in the world is my friend" hypersociability in young children with Williams syndrome.

  Teresa F Doyle,Ursula Bellugi,Julie R Korenberg,John Graham

  Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, California 92037, USA. doyle@salk.edu

  doyle@salk.edu

  Am J Med Genet A (P 1552-4825 E 1552-4825) H指数：79 2004 年 124A 卷 3 期 263-73 页

  PMID：14708099 相似文献

  文摘 DOI链接 Wiley

• 3. An extra idic(21)(q22.1) in a child with some features of Down's syndrome.

  M Gütiérrez-Angulo,A L Ramos,N Dávalos,J Sánchez-Corona,H Rivera

  Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico.

  Clin Genet (P 0009-9163 E 0009-9163) H指数：92 1999 年 55 卷 3 期 203-6 页

  PMID：10334475 相似文献

  文摘 DOI链接 Ovid Technologies, Inc.Wiley

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