Ontology highlight
ABSTRACT:
SUBMITTER: Tajir M
PROVIDER: S-EPMC7474213 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Balkan journal of medical genetics : BJMG 20200601 1
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with typical eyelid fusion in addition to a cleft lip and/or palate. The diagnosis is based on clinical criteria and molecular genetic testing of <i>TP63</i> gene, the gene related to AEC syndrome. In this ...[more]