Literature DB >> 23495039

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

M D Speevak1, S Zeesman, N Leonard, M J Nowaczyk.   

Abstract

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Year:  2013        PMID： 23495039     DOI： 10.1002/ajmg.a.35828

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


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  3 in total

1.  A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Authors:  Sonja A de Munnik; Sixto García-Miñaúr; Alexander Hoischen; Bregje W van Bon; Kym M Boycott; Jeroen Schoots; Lies H Hoefsloot; Nine V A M Knoers; Ernie M H F Bongers; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2013-11-06       Impact factor: 4.246

2.  A patient with constitutional ring 1 chromosome characterized by SNP array CGH.

Authors:  Sheila Saliganan; Joanna Lee; Sainan Wei
Journal:  Clin Case Rep       Date:  2016-03-21

3.  Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay.

Authors:  Yiehen Tung; Haiying Lu; Wenxin Lin; Tingting Huang; Samuel Kim; Guo Hu; Gang Zhang; Guo Zheng
Journal:  Front Genet       Date:  2021-05-20       Impact factor: 4.599
  3 in total

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