Literature DB >> 12919142

Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication.

S A Farrell, A Sajoo, D Maybury, M D Speevak.   

Abstract

Mesh：

Year:  2003        PMID： 12919142     DOI： 10.1034/j.1399-0004.2003.00120.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Authors:  Stephen R Williams; Sureni V Mullegama; Jill A Rosenfeld; Aditi I Dagli; Eli Hatchwell; William P Allen; Charles A Williams; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2009-11-11       Impact factor: 4.246
  1 in total

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