The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.
作者信息
Hughes-Benzie R, Allanson J, Hunter A, Cole T
出版信息
J Med Genet. 1992 Dec;29(12):928. doi: 10.1136/jmg.29.12.928-b.
Abstract
摘要
相似文献
1
The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.
J Med Genet. 1992 Dec;29(12):928. doi: 10.1136/jmg.29.12.928-b.
2
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
Taiwan J Obstet Gynecol. 2012 Jun;51(2):186-91. doi: 10.1016/j.tjog.2012.04.004.
3
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.
Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.
4
Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.
Clin Genet. 1995 May;47(5):257-62. doi: 10.1111/j.1399-0004.1995.tb04307.x.
5
[The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure].
Minerva Pediatr. 1993 Apr;45(4):163-7.
6
Overgrowth syndromes: an update.
Adv Pediatr. 1999;46:441-91.
7
Hepatoblastoma in molecularly defined, congenital diseases.
Am J Med Genet A. 2022 Sep;188(9):2527-2535. doi: 10.1002/ajmg.a.62767. Epub 2022 Apr 28.
8
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
Hum Mol Genet. 2000 May 22;9(9):1321-8. doi: 10.1093/hmg/9.9.1321.
9
The overlap between Sotos and Beckwith-Wiedemann syndromes.
J Pediatr. 2010 Jun;156(6):1035-1036. doi: 10.1016/j.jpeds.2010.02.063. Epub 2010 Apr 14.
10
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
Am J Med Genet. 1992;43(1-2):428-35. doi: 10.1002/ajmg.1320430165.
引用本文的文献
1
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Eur J Pediatr. 2008 Mar;167(3):257-65. doi: 10.1007/s00431-007-0600-2. Epub 2007 Oct 3.
2
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
J Med Genet. 1998 Feb;35(2):153-6. doi: 10.1136/jmg.35.2.153.
3
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.
Genes Dev. 1997 Dec 1;11(23):3128-42. doi: 10.1101/gad.11.23.3128.
4
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
J Med Genet. 1997 Sep;34(9):719-28. doi: 10.1136/jmg.34.9.719.
5
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480.
6
Molecular genetic basis of Wilms' tumour?
Br J Cancer. 1995 Feb;71(2):427. doi: 10.1038/bjc.1995.87.
本文引用的文献
1
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.
Am J Med Genet. 1986 May;24(1):41-55. doi: 10.1002/ajmg.1320240107.
2
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.
Am J Hum Genet. 1989 May;44(5):711-9.
3
Monozygotic twinning and Wiedemann-Beckwith syndrome.
Am J Med Genet. 1992 Feb 15;42(4):633-7. doi: 10.1002/ajmg.1320420440.
4
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
Am J Med Genet. 1992;43(1-2):428-35. doi: 10.1002/ajmg.1320430165.
5
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
J Med Genet. 1992 Apr;29(4):221-5. doi: 10.1136/jmg.29.4.221.
6
Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.
J Med Genet. 1992 Apr;29(4):217-20. doi: 10.1136/jmg.29.4.217.
Zotero 插件