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1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite commo...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hu, Ping, Wang, Yan, Meng, Lu-lu, Qin, Ling, Ma, Ding-yuan, Yi, Long, Xu, Zheng-feng
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3766032/
https://ncbi.nlm.nih.gov/pubmed/23915434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-30
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