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[Statistical analysis of 47 cases with Holt-Qram syndrome].
Hunan Yi Ke Da Xue Xue Bao. 2001 Jun 28; 26(3):244-6.HY

Abstract

By statistical analysis of 47 cases with Holt-Qram syndrome(HOS), we found that the severity of the upper limb abnormalities and cardiac defects in HOS varied significantly with different individuals. The variations of appearance were related with the types and positions of mutatons of TBX5 gene which could damage the gene function and cause HOS. It is suggested that the genetic heterogeneity in HOS may be caused by the mutations of different genes.

Authors+Show Affiliations

Department of Cardiothoracic Surgery, Second Xiangya Hospital, Central South University, Changsha 410011, China.No affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

12536695

Citation

Yang, J F., et al. "[Statistical Analysis of 47 Cases With Holt-Qram Syndrome]." Hunan Yi Ke Da Xue Xue Bao = Hunan Yike Daxue Xuebao = Bulletin of Hunan Medical University, vol. 26, no. 3, 2001, pp. 244-6.
Yang JF, Hu DX, Zhou XM. [Statistical analysis of 47 cases with Holt-Qram syndrome]. Hunan Yi Ke Da Xue Xue Bao. 2001;26(3):244-6.
Yang, J. F., Hu, D. X., & Zhou, X. M. (2001). [Statistical analysis of 47 cases with Holt-Qram syndrome]. Hunan Yi Ke Da Xue Xue Bao = Hunan Yike Daxue Xuebao = Bulletin of Hunan Medical University, 26(3), 244-6.
Yang JF, Hu DX, Zhou XM. [Statistical Analysis of 47 Cases With Holt-Qram Syndrome]. Hunan Yi Ke Da Xue Xue Bao. 2001 Jun 28;26(3):244-6. PubMed PMID: 12536695.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Statistical analysis of 47 cases with Holt-Qram syndrome]. AU - Yang,J F, AU - Hu,D X, AU - Zhou,X M, PY - 2003/1/23/pubmed PY - 2003/5/6/medline PY - 2003/1/23/entrez SP - 244 EP - 6 JF - Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University JO - Hunan Yi Ke Da Xue Xue Bao VL - 26 IS - 3 N2 - By statistical analysis of 47 cases with Holt-Qram syndrome(HOS), we found that the severity of the upper limb abnormalities and cardiac defects in HOS varied significantly with different individuals. The variations of appearance were related with the types and positions of mutatons of TBX5 gene which could damage the gene function and cause HOS. It is suggested that the genetic heterogeneity in HOS may be caused by the mutations of different genes. SN - 1000-5625 UR - https://www.unboundmedicine.com/medline/citation/12536695/[Statistical_analysis_of_47_cases_with_Holt_Qram_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/39 DB - PRIME DP - Unbound Medicine ER -