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Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. Brassington AM, et al. Am J Hum Genet. 2003 Jul;73(1):74-85. doi: 10.1086/376436. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789647 Free PMC article.
Mutations in TBX5, a T-box-containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result in haploinsufficiency of TBX5 are purported to cause cardiac and limb defects of similar sever …
Mutations in TBX5, a T-box-containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram …
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. McDermott DA, et al. Pediatr Res. 2005 Nov;58(5):981-6. doi: 10.1203/01.PDR.0000182593.95441.64. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183809
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene. ...
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease …
A genotype-first analysis in a cohort of Mullerian anomaly.
Tian W, Chen N, Ye Y, Ma C, Qin C, Niu Y, Xiaoxin L, Zhao L, Zhao H, Liang Z, Song S, Wang Y, Chen Z, Lin J, Yan Z, Duan J, Zhao S, Zhang TJ, Qiu G, Wu Z, Wu N, Zhu L. Tian W, et al. J Hum Genet. 2022 Jun;67(6):347-352. doi: 10.1038/s10038-021-00996-w. Epub 2022 Jan 13. J Hum Genet. 2022. PMID: 35022528
M.A. can either be isolated or be involved in Mendelian syndromes, such as Dandy-Walker syndrome, Holt-Oram syndrome and Bardet-Biedl syndrome, which are often associated with both uterus and kidney malformations. ...
M.A. can either be isolated or be involved in Mendelian syndromes, such as Dandy-Walker syndrome, Holt-Oram syndrome …
Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.
Guo Q, Shen J, Liu Y, Pu T, Sun K, Chen S. Guo Q, et al. Cell Physiol Biochem. 2015;37(3):1066-74. doi: 10.1159/000430232. Epub 2015 Sep 25. Cell Physiol Biochem. 2015. PMID: 26401820 Free article.
BACKGROUND/AIMS: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. ...We aimed to find …
BACKGROUND/AIMS: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main …