Lanean...
16p subtelomeric duplication: a clinically recognizable syndrome
We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead,...
Gorde:
| Egile Nagusiak: | , , , , , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2009
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986590/ https://ncbi.nlm.nih.gov/pubmed/19293839 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.14 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|