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Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal r...

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Detalhes bibliográficos
Main Authors: Zrnová, E., Vranová, V., Šoukalová, J., Slámová, I., Vilémová, M., Gaillyová, R., Kuglík, P.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3326276/
https://ncbi.nlm.nih.gov/pubmed/22511897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335334
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