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[Genetical basis of Holt-Oram syndrome].
Wiad Lek. 1999; 52(11-12):606-9.WL

Abstract

On the basis of literature the review of data concerning genetical ground of Holt--Oram syndrome was presented. This disease is characterized by coexistence of congenital heart malformation and osseous abnormalities of upper limbs. It has been known since 1994 that the locus of the gene responsible for Holt--Oram syndrome appearance is situated in the region 12q21-q22 of chromosome 12. In 1997 this gene was defined as the TBX5 belonging to the family T-box which codes the transcription factors during embryonic development. In the cases of familial and sporadic appearance of Holt--Oram syndrome different mutations in the TBX5 gene were described. No correlation was found between mutation type and the clinical features. It is suspected that TBX5 gene is interacting with the other ones during embryonic differentiation processes.

Authors+Show Affiliations

Zakładu Genetyki Medycznej Slaskiej Akademii Medycznej w Katowicach.No affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

pol

PubMed ID

10745699

Citation

Rokicka, A, and W Rokicki. "[Genetical Basis of Holt-Oram Syndrome]." Wiadomosci Lekarskie (Warsaw, Poland : 1960), vol. 52, no. 11-12, 1999, pp. 606-9.
Rokicka A, Rokicki W. [Genetical basis of Holt-Oram syndrome]. Wiad Lek. 1999;52(11-12):606-9.
Rokicka, A., & Rokicki, W. (1999). [Genetical basis of Holt-Oram syndrome]. Wiadomosci Lekarskie (Warsaw, Poland : 1960), 52(11-12), 606-9.
Rokicka A, Rokicki W. [Genetical Basis of Holt-Oram Syndrome]. Wiad Lek. 1999;52(11-12):606-9. PubMed PMID: 10745699.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetical basis of Holt-Oram syndrome]. AU - Rokicka,A, AU - Rokicki,W, PY - 2000/4/4/pubmed PY - 2000/5/8/medline PY - 2000/4/4/entrez SP - 606 EP - 9 JF - Wiadomosci lekarskie (Warsaw, Poland : 1960) JO - Wiad. Lek. VL - 52 IS - 11-12 N2 - On the basis of literature the review of data concerning genetical ground of Holt--Oram syndrome was presented. This disease is characterized by coexistence of congenital heart malformation and osseous abnormalities of upper limbs. It has been known since 1994 that the locus of the gene responsible for Holt--Oram syndrome appearance is situated in the region 12q21-q22 of chromosome 12. In 1997 this gene was defined as the TBX5 belonging to the family T-box which codes the transcription factors during embryonic development. In the cases of familial and sporadic appearance of Holt--Oram syndrome different mutations in the TBX5 gene were described. No correlation was found between mutation type and the clinical features. It is suspected that TBX5 gene is interacting with the other ones during embryonic differentiation processes. SN - 0043-5147 UR - https://www.unboundmedicine.com/medline/citation/10745699/[Genetical_basis_of_Holt_Oram_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -