Literature DB >> 24169032

Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report.

Daigo Ochiai1, Hirofumi Ohashi, Hiromi Hisazumi-Watanabe, Yoshiomi Sato, Kazumi Yakubo, Tatsuro Fukuiya.   

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Year:  2013        PMID： 24169032     DOI： 10.1016/j.ejogrb.2013.09.044

Source DB:  PubMed          Journal:  Eur J Obstet Gynecol Reprod Biol        ISSN： 0301-2115            Impact factor:   2.435


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  2 in total

1.  First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Authors:  Heidi Kristine Støve; Naja Becher; Vibike Gjørup; Mette Ramsing; Ida Vogel; Else Marie Vestergaard
Journal:  Clin Case Rep       Date:  2017-03-17

Review 2.  Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Authors:  Jing Liu; Qin Liu; Shuting Yang; Na Ma; Jialun Pang; Ying Peng; Hui Xi; Zhengjun Jia; Yingchun Luo; Meiping Jiang; Yanling Teng; Wenxian Yu; Zhuo Li; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2021-07-22       Impact factor: 2.183
  2 in total

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