Ontology highlight
ABSTRACT:
SUBMITTER: Molho-Pessach V
PROVIDER: S-EPMC2561939 | biostudies-literature | 2008 Oct
REPOSITORIES: biostudies-literature
Molho-Pessach Vered V Lerer Israela I Abeliovich Dvorah D Agha Ziad Z Abu Libdeh Abdulasalam A Broshtilova Valentina V Elpeleg Orly O Zlotogorski Abraham A
American journal of human genetics 20081001 4
The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three ...[more]