Literature DB >> 25900196

Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects.

Arnaud Uguen1,2,3, Matthieu Talagas2,3,4, Sylvia Quémener-Redon1,5, Pascale Marcorelles2,3,4, Marc De Braekeleer1,3,6.   

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Year:  2015        PMID： 25900196     DOI： 10.1002/ajmg.a.37072

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


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  4 in total

1.  Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.

Authors:  Melitza S M Elizabeth; Annemieke J M H Verkerk; Anita C S Hokken-Koelega; Joost A M Verlouw; Jesús Argente; Roland Pfaeffle; Sebastian J C M M Neggers; Jenny A Visser; Laura C G de Graaff
Journal:  Pituitary       Date:  2020-11-13       Impact factor: 4.107

Review 2.  Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects.

Authors:  R D Wilson; D L O'Connor
Journal:  Prev Med Rep       Date:  2021-10-25

3.  Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.

Authors:  Katie U Gaynor; Irina V Grigorieva; Samantha M Mirczuk; Sian Piret; Kreepa G Kooblall; Mark Stevenson; Karine Rizzoti; Mike R Bowl; M Andrew Nesbit; Paul T Christie; William D Fraser; Tertius Hough; Michael P Whyte; Robin Lovell-Badge; Rajesh Thakker
Journal:  Endocr Connect       Date:  2020-01-01       Impact factor: 3.335

4.  Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.

Authors:  Caiqi Du; Feiya Wang; Zhuoguang Li; Mini Zhang; Xiao Yu; Yan Liang; Xiaoping Luo
Journal:  BMC Med Genomics       Date:  2022-02-03       Impact factor: 3.063
  4 in total

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