Llwytho...
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed tha...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Med Genet |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
1993
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016239/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8423612/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.1.70 |
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