Bohring-Opitz syndrome in Libya

Yousef Assaleh

doi:10.54361/ljmr.v8i1.08

Authors

Yousef Assaleh Department of pediatric neurology, Zawia Teaching Hospital and National Medical Research Center, Zawia, Libya Author

DOI:

https://doi.org/10.54361/ljmr.v8i1.08

Abstract

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References

Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A and Opitz JM. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet. 1999, 85: 438-446. DOI: https://doi.org/10.1002/(SICI)1096-8628(19990827)85:5<438::AID-AJMG2>3.0.CO;2-A

Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G and Schorderet DFC. Trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel. 1995, 6: 113-120.

Oberklaid F and Danks DM. The Opitz trigonocephaly syndrome: a case report. Am J Dis Child. 1975, 129: 1348-1349. DOI: https://doi.org/10.1001/archpedi.1975.02120480062016

Bohring A, Oudesluijs GG, Grange DK, Zampino G and Thierry P. New cases of Bohring- Opitz syndrome, update, and critical review of the literature. Am J Med Genet. 2006, 140A: 1257-1263. DOI: https://doi.org/10.1002/ajmg.a.31265

Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC and Giuliano F. Evolution of a patient with Bohring-Opitz syndrome. Am J Med Genet. 2009, 149A: 1754-1757. DOI: https://doi.org/10.1002/ajmg.a.32910

Hoischen A, van Bon BWM, Rodriguez-Santiago B, Gilissen C, Vissers LM, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R and Kjaergaard S. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genet. 2011, 43: 729- 731. DOI: https://doi.org/10.1038/ng.868

Magini P, Della Monica M, Uzielli MLG, Mongelli P, Scarselli G, Gambineri E, Scarano G and Seri M. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet. 2012, 158A: 917-921. DOI: https://doi.org/10.1002/ajmg.a.35265

Brunner HG, van Tintelen JP and de Boer RJ. Bohring syndrome. Am J Med Genet. 2000, 92: 366-368. DOI: https://doi.org/10.1002/1096-8628(20000619)92:5<366::AID-AJMG15>3.0.CO;2-U

Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H and Smithson SF. Siblings with Bohring-Opitz syndrome. Clin Dysmorph. 2003, 12: 15-19. DOI: https://doi.org/10.1097/00019605-200301000-00003

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N and Naritomi K. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 2007, 81: 835-841. DOI: https://doi.org/10.1086/522014

Lindor NM, Ramin KD, Kleinberg F and Bite U. Severe end of Opitz trigonocephaly C syndrome. Am J Med Genet. 2000, 92: 361-362.

Nakane T, Kubota T, Fukushima Y, Hata Y, Ishii J and Komiyama A. Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. Am J Med Genet. 2000, 92: 361-362. DOI: https://doi.org/10.1002/1096-8628(20000619)92:5<361::AID-AJMG13>3.0.CO;2-E

Osaki M, Makita Y, Miura J, Abe N, Noguchi S and Miyamoto A. A Japanese boy with apparent Bohring-Opitz or 'C-like' syndrome. Am J Med Genet. 2006, 140A: 897-899. DOI: https://doi.org/10.1002/ajmg.a.31164

Laboratorium genoomdiagnostitiek, center for human genetics, Biocientia Gmbh, Konrad- Adenaur-str.17 Germany.