Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Deletions in chromosome 17q12 encompassing the HNF1β gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an...

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Autors principals: Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan, Lalani, Seema R, Stankiewicz, Pawel, Sutton, V Reid, Cheung, Sau Wai
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987224/
https://ncbi.nlm.nih.gov/pubmed/19844256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.174
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