Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.

Wang, De-Gang; Dong, Xing-Sheng; Xiong, Yi; Li, Zhi-Ming; Xie, Ying-Jun; Liang, Shu-Hua; Huang, Tian-Hua

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.

Wang, De-Gang; Dong, Xing-Sheng; Xiong, Yi; Li, Zhi-Ming; Xie, Ying-Jun; Liang, Shu-Hua; Huang, Tian-Hua.

Affiliation

Wang DG; Research Center for Reproductive Medicine, Shantou University Medical College, Shantou, China.
Dong XS; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China.
Xiong Y; The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Li ZM; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China.
Xie YJ; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China.
Liang SH; The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Huang TH; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China.

Am J Med Genet A ; 188(1): 58-70, 2022 01.

Article de En | MEDLINE | ID: mdl-34490705

Sujet(s)
Mots clés

Holt-Oram syndrome; TBX5; aberrant splicing; minigene splicing assay

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Anomalies morphologiques congénitales du membre inférieur / Anomalies morphologiques congénitales du membre supérieur / Cardiopathies congénitales / Communications interauriculaires Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Female / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: Chine Pays de publication: États-Unis d'Amérique

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