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TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. Niceta M, et al. Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Eur J Med Genet. 2019. PMID: 30189253 Free article. Review.
TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and talipes equinovarus, as major features. ...
TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental del …
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
Kaeppler KE, Stetson RC, Lanpher BC, Collura CA. Kaeppler KE, et al. Am J Med Genet A. 2018 Dec;176(12):2911-2914. doi: 10.1002/ajmg.a.40645. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450804 Review.
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X-linked condition. ...The patient also had physical findings common with previously reported individuals with TARP syndrome in …
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X- …
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM. Kumps C, et al. Clin Genet. 2021 Mar;99(3):449-456. doi: 10.1111/cge.13901. Epub 2021 Jan 5. Clin Genet. 2021. PMID: 33340101
Our results illustrate the highly pleiotropic nature of RBM10 pathogenic variants, beyond the classic TARP syndrome features. Major clinical characteristics include severe developmental delay, failure to thrive, brain malformations, neurological symptoms, respirator …
Our results illustrate the highly pleiotropic nature of RBM10 pathogenic variants, beyond the classic TARP syndrome features. …
Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome.
Omorodion J, Tannenbaum L, O'Neill JP, Cummings C, Wojcik MH. Omorodion J, et al. Birth Defects Res. 2023 Aug 1;115(13):1216-1221. doi: 10.1002/bdr2.2212. Epub 2023 Jun 21. Birth Defects Res. 2023. PMID: 37340830 Review.
BACKGROUND: TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava, is an X-linked recessive condition caused by deleterious variants in RBM10. ...There are no previously reported cases of VV …
BACKGROUND: TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left sup …
TARP syndrome associated with renal malformation and optic nerve atrophy.
Manotas H, Payán-Gómez C, Roa MF, Piñeros JG. Manotas H, et al. BMJ Case Rep. 2021 May 24;14(5):e240601. doi: 10.1136/bcr-2020-240601. BMJ Case Rep. 2021. PMID: 34031074 Free PMC article.
Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the RBBM10 gene. ...Due to a lack of reports in the medical literature, the phenotype has not fully been d …
Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenit …
Congenital talipes equinovarus (clubfoot).
Society for Maternal-Fetal Medicine; McKinney J, Rac MWF, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B10-B12. doi: 10.1016/j.ajog.2019.09.022. Am J Obstet Gynecol. 2019. PMID: 31787157 No abstract available.
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Owczarek-Lipska M, Markus F, Bültmann E, Korenke GC, Neidhardt J. Owczarek-Lipska M, et al. Genes (Basel). 2022 Nov 18;13(11):2154. doi: 10.3390/genes13112154. Genes (Basel). 2022. PMID: 36421828 Free PMC article.
TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. ...
TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a …
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Gripp KW, et al. Am J Med Genet A. 2011 Oct;155A(10):2516-20. doi: 10.1002/ajmg.a.34190. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910224 Free PMC article.
TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males. ... …
TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cle …
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, Jones C. Powis Z, et al. BMC Med Genet. 2017 Jun 2;18(1):60. doi: 10.1186/s12881-017-0426-3. BMC Med Genet. 2017. PMID: 28577551 Free PMC article.
CONCLUSION: DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other …
CONCLUSION: DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in who …
First reported adult patient with TARP syndrome: A case report.
Højland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Højland AT, et al. Am J Med Genet A. 2018 Dec;176(12):2915-2918. doi: 10.1002/ajmg.a.40638. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462380 Free PMC article.
In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, …
In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 2 …
12 results