Literature DB >> 17256794

Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss.

Denise Yan1, Xiao Mei Ouyang, Simon I Angeli, Li Lin Du, Xue Zong Liu.   

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Year:  2007        PMID： 17256794     DOI： 10.1002/ajmg.a.31553

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Authors:  Satoko Abe; Shin-Ya Nishio; Yoh Yokota; Hideaki Moteki; Kozo Kumakawa; Shin-Ichi Usami
Journal:  Clin Case Rep       Date:  2018-09-21
  1 in total

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