Literature DB >> 16007616

Structural central nervous system (CNS) anomalies in Kabuki syndrome.

T Ben-Omran, Ahmad S Teebi.   

Abstract

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Year:  2005        PMID： 16007616     DOI： 10.1002/ajmg.a.30842

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


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  6 in total

1.  Hypothalamic pituitary complications in Kabuki syndrome.

Authors:  Naoko Ito; Kenji Ihara; Yasushi Tsutsumi; Noriko Miyake; Naomichi Matsumoto; Toshiro Hara
Journal:  Pituitary       Date:  2013-06       Impact factor: 4.107

2.  Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Authors:  Cedrik Tekendo-Ngongang; Paul Kruszka; Ariel F Martinez; Maximilian Muenke
Journal:  Clin Genet       Date:  2019-07-15       Impact factor: 4.438

Review 3.  Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Authors:  Shuang Liu; Xiafei Hong; Cheng Shen; Quan Shi; Jian Wang; Feng Xiong; Zhengqing Qiu
Journal:  BMC Med Genet       Date:  2015-04-21       Impact factor: 2.103

4.  Carotid artery occlusion in Kabuki syndrome: Case report and literature review.

Authors:  Luana A M Gatto; Luis Henrique A Sousa; Gelson Luis Koppe; Zeferino Demartini
Journal:  Surg Neurol Int       Date:  2017-05-26

5.  Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.

Authors:  L C M van Dongen; P A M Wingbermühle; W M van der Veld; C Stumpel; T Kleefstra; J I M Egger
Journal:  J Intellect Disabil Res       Date:  2019-02-06

6.  Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

Authors:  Yasemin Topcu; Erhan Bayram; Pakize Karaoglu; Uluc Yis; Semra Hız Kurul
Journal:  J Pediatr Neurosci       Date:  2013-09
  6 in total

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