Literature DB >> 26602209

Hepatoblastoma in a male with MECP2 duplication syndrome.

Angela Trobaugh-Lotrario1, Judith Martin1, Dolores López-Terrada2.   

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Year:  2015        PMID： 26602209     DOI： 10.1002/ajmg.a.37474

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


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  4 in total

1.  Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Authors:  Xiaoyan Li; Hua Xie; Qian Chen; Xiongying Yu; Zhaoshi Yi; Erzhen Li; Ting Zhang; Jian Wang; Jianmin Zhong; Xiaoli Chen
Journal:  BMC Med Genet       Date:  2017-11-15       Impact factor: 2.103

Review 2.  A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Authors:  Daniel Ta; Jenny Downs; Gareth Baynam; Andrew Wilson; Peter Richmond; Helen Leonard
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

3.  Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale.

Authors:  Rosa Angela Fabio; Liliana Chiarini; Virginia Canegallo
Journal:  Orphanet J Rare Dis       Date:  2022-09-14       Impact factor: 4.303

Review 4.  Hepatoblastoma in molecularly defined, congenital diseases.

Authors:  Gunther Nussbaumer; Martin Benesch
Journal:  Am J Med Genet A       Date:  2022-04-28       Impact factor: 2.578
  4 in total

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