FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype. Hence, this interesting case of 22q11.2 deletion syndrome exists in 2 generations of the same family. The aim of...
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| Autores principales: | , , , |
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| Formato: | article |
| Lenguaje: | RU |
| Publicado: |
SPb RAACI
2017
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/37f763de45724cc993fe6fdefad04732 |
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