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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Cytogenet |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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