Literature DB >> 10636744

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12.

A F Brady, M M Elsawi, C R Jamieson, K Marks, S Jeffery, M A Patton, L Murtaza, M O Savage.   

Abstract

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Year:  1999        PMID： 10636744      PMCID： PMC1734275     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.

Authors:  Ayumi Matsumoto; Makoto Mizuno; Nanako Hamada; Yasuyuki Nozaki; Eriko F Jimbo; Mariko Y Momoi; Koh-ichi Nagata; Takanori Yamagata
Journal:  PLoS One       Date:  2014-03-21       Impact factor: 3.240

2.  A New 12q21 Deletion Syndrome: A Case Report and Literature Review.

Authors:  Alessandra Di Nora; Greta De Costa; Alessia Di Mari; Marco Montemagno; Vito Pavone; Piero Pavone
Journal:  Glob Med Genet       Date:  2022-07-21
  2 in total

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