Open AccessO'Donnel‑Luria‑Rodan Syndrome: New gene variant identified in Romania (A case report)
Author(s) -
Andreea Cătană,
Enikő Kutasi,
Zina Cuzmici-Barabaș,
Diana Militaru,
Irina Iordănescu,
Mariela Militaru
Publication year - 2022
Publication title -
experimental and therapeutic medicine
Language(s) - Uncategorized
Resource type - Journals
eISSN - 1792-1015
pISSN - 1792-0981
DOI - 10.3892/etm.2022.11294
Subject(s) - exome sequencing , autism spectrum disorder , genetics , autism , hypotonia , intellectual disability , phenotype , epilepsy , gene , heritability of autism , mutation , biology , medicine , psychiatry