Open AccessFirst documented case of Myhre syndrome in Romania: A case report
Author(s) -
Andreea Cătană,
Ruxandra SimonescuColan,
Zina Cuzmicibarabaș,
Diana Militaru,
Irina Iordănescu,
Mariela Militaru
Publication year - 2022
Publication title -
experimental and therapeutic medicine
Language(s) - English
Resource type - Journals
eISSN - 1792-1015
pISSN - 1792-0981
DOI - 10.3892/etm.2022.11252
Subject(s) - missense mutation , intellectual disability , exome sequencing , medicine , genetics , pathology , biology , phenotype , gene