Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing
Helen McDermott(Birmingham Women’s and Children’s NHS Foundation Trust), Amy Henderson(New Cross Hospital), Hannah K. Robinson(Genomics (United Kingdom)), Richard Heaver(New Cross Hospital), Chrisantha Halahakoon(New Cross Hospital), Helen Cox(Birmingham Women’s and Children’s NHS Foundation Trust), Swati Naik(Birmingham Women’s and Children’s NHS Foundation Trust)
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