Cargando…
Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report
BACKGROUND: Combined pituitary hormone deficiency 3 (CPHD3; OMIM: 221750) is caused by mutations within the LHX3 gene (OMIM: 600577), which located on the subtelomeric region of chromosome 9 at band 9q34.3, has seven coding exons and six introns. LIM homeobox (LHX) 3 protein is the key regulator of...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649574/ https://www.ncbi.nlm.nih.gov/pubmed/36387827 http://dx.doi.org/10.12998/wjcc.v10.i31.11486 |