Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Eng, Christine, Ou, Zhishuo, Chinault, Craig, Workman, Laura, Coldwell, James, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R, Cheung, Sau Wai
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2009
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986272/
https://ncbi.nlm.nih.gov/pubmed/19034313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.220
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak