Literature DB >> 10861668

Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example.

T Nakane, T Kubota, Y Fukushima, Y Hata, J Ishii, A Komiyama.   

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Year:  2000        PMID： 10861668     DOI： 10.1002/1096-8628(20000619)92:5<361::aid-ajmg13>3.0.co;2-e

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Authors:  Bianca Russell; Jennifer J Johnston; Leslie G Biesecker; Nancy Kramer; Angela Pickart; William Rhead; Wen-Hann Tan; Catherine A Brownstein; L Kate Clarkson; Amy Dobson; Avi Z Rosenberg; Samantha A Schrier Vergano; Benjamin M Helm; Rachel E Harrison; John M Graham
Journal:  Am J Med Genet A       Date:  2015-04-29       Impact factor: 2.802

2.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

3.  Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Authors:  Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Ichiro Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Ko-Ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Journal:  Am J Hum Genet       Date:  2007-08-27       Impact factor: 11.025

4.  Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

Authors:  Linfeng Yang; Bin Guo; Weiwei Zhu; Lei Wang; Bingjuan Han; Yena Che; Lingfei Guo
Journal:  BMC Pediatr       Date:  2020-06-09       Impact factor: 2.125
  4 in total

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