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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- …
RBM10: Structure, functions, and associated diseases.
Inoue A. Inoue A. Gene. 2021 May 30;783:145463. doi: 10.1016/j.gene.2021.145463. Epub 2021 Jan 28. Gene. 2021. PMID: 33515724 Free PMC article. Review.
Recently, research on RBM10 has become increasingly active owing to its clinical importance, as indicated by studies on RBM0 mutations that cause TARP syndrome, an X-linked congenital pleiotropic developmental anomaly, and various cancers such as lung adenocarcinoma …
Recently, research on RBM10 has become increasingly active owing to its clinical importance, as indicated by studies on RBM0 mutations that …
RBM10: Harmful or helpful-many factors to consider.
Loiselle JJ, Sutherland LC. Loiselle JJ, et al. J Cell Biochem. 2018 May;119(5):3809-3818. doi: 10.1002/jcb.26644. Epub 2018 Jan 19. J Cell Biochem. 2018. PMID: 29274279 Free PMC article. Review.
Interest in RBM10 is rapidly increasing and its clinical importance is highlighted by its identification as the causative agent of TARP syndrome, a developmental condition that significantly impacts affected children. ...
Interest in RBM10 is rapidly increasing and its clinical importance is highlighted by its identification as the causative agent of TARP …
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 …
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 …
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
Regan-Fendt KE, Izumi K. Regan-Fendt KE, et al. Hum Genet. 2024 Apr;143(4):529-544. doi: 10.1007/s00439-023-02540-6. Epub 2023 Mar 16. Hum Genet. 2024. PMID: 36929417 Review.
In this review article, a general overview of nuclear speckle function, and the current knowledge of the mechanisms underlying some nuclear speckleopathies, such as ZTTK syndrome, NKAP-related syndrome, TARP syndrome, and TAR syndrome, are discussed. These nuclear s …
In this review article, a general overview of nuclear speckle function, and the current knowledge of the mechanisms underlying some nuclear …