Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing-Reference-Cited by-同舟云学术

Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing

Published:2021-08 Issue:8 Volume:31 Page:783-787
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

McDermott Helen,Henderson Amy,Robinson Hannah K.,Heaver Richard,Halahakoon Chrisantha,Cox Helen,Naik Swati

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference15 articles.

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1. Identification of four TTN variants in three families with fetal akinesia deformation sequence;BMC Medical Genomics;2024-06-27

2. Titin copy number variations associated with dominant inherited phenotypes;Journal of Medical Genetics;2023-11-07

3. Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus;Case Reports in Genetics;2023-07-18

4. The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum;Journal of Medical Genetics;2023-03-28

5. A spectrum of clinical severity of recessive titinopathies in prenatal;Frontiers in Genetics;2023-01-25