A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
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| Title: | A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome. |
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| Authors: | Chen TY; Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China., Chen Y; Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China., Tang LF; Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jun; Vol. 197 (6), pp. e63996. Date of Electronic Publication: 2025 Jan 30. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63996 |
