TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.09.001
Abstract: 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. The disease is caused by inactivating mutations in RBM10 which encodes… read more here.
Keywords: long term; congenital heart; heart defects; tarp syndrome ... See more keywords
Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-253035
Abstract: TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal… read more here.
Keywords: function tests; tarp syndrome; abnormal liver; liver function ... See more keywords
A Frameshift RBM10 Variant Associated With TARP Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.922048
Abstract: TARP syndrome is a rare X-linked genetic condition caused by mutations in the RBM10 gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava.… read more here.
Keywords: frameshift rbm10; tarp syndrome; associated tarp; rbm10 variant ... See more keywords
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112154
Abstract: 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. The phenotypic spectrum of TARP shows high… read more here.
Keywords: tarp syndrome; rbm10; tarp; phenotype associated ... See more keywords