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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...
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Publicado no: | Mol Cytogenet |
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Main Authors: | , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4766673/ https://ncbi.nlm.nih.gov/pubmed/26918030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0231-2 |
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