Cargando…
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
BACKGROUND: Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thicke...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766673/ https://www.ncbi.nlm.nih.gov/pubmed/26918030 http://dx.doi.org/10.1186/s13039-016-0231-2 |