1q21.1 Microduplication expression in adults

PURPOSE: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling. METHODS: A systematic review of 22 studies reporting 107 individuals (...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Dolcetti, Alessia, Silversides, Candice K., Marshall, Christian R., Lionel, Anath C., Stavropoulos, Dimitri J., Scherer, Stephen W., Bassett, Anne S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3817079/
https://ncbi.nlm.nih.gov/pubmed/23018752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.129
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