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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • European Certificate (WG10)
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    • ILIAD RD register
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    • Publications
    • ITHACA Research Meeting
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    • ERN ITHACA Guidelines
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    • Online Genetics Course APOGeE
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
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    • EuroDysmorpho 2024
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Home > Our Research Activities > List Of Publications > Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
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