Llwytho...
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).
We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip,...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
1997
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051130/ https://ncbi.nlm.nih.gov/pubmed/9391896 |
| Tagiau: |
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