European Reference Network For Rare Congenital Malformations and Rare Intellectual Disability (ITHACA) aims to meet the needs of patients, both diagnosed and undiagnosed. ITHACA works to improve access to diagnostic expertise by utilising an innovative telehealth approach and guiding quality assured diagnostic testing.
Scientific articles
- Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
- Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
- Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing
- DK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
Other links
Details
- Publication date
- 21 January 2021