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Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
BACKGROUND: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has...
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| Vydáno v: | Mol Cytogenet |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6098576/ https://ncbi.nlm.nih.gov/pubmed/30140312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0395-z |
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