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ZEB2, a new candidate gene for asplenia.
Orphanet J Rare Dis. 2014 Jan 8;9:2. doi: 10.1186/1750-1172-9-2.
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Clinical utility gene card for: Mowat-Wilson syndrome.
Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23.
3
Mowat-Wilson syndrome associated with craniosynostosis.
Clin Dysmorphol. 2014 Jan;23(1):16-19. doi: 10.1097/MCD.0000000000000016.
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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8.
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Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.
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Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
J Pediatr Surg. 2016 Feb;51(2):268-71. doi: 10.1016/j.jpedsurg.2015.10.070. Epub 2015 Nov 5.
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Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568.
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Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Am J Med Genet A. 2015 Jul;167(7):1587-92. doi: 10.1002/ajmg.a.36898. Epub 2015 Apr 21.
10
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Eur J Med Genet. 2016 Feb;59(2):70-4. doi: 10.1016/j.ejmg.2015.12.006. Epub 2015 Dec 22.

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1
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.
Pharmgenomics Pers Med. 2022 Nov 1;15:913-918. doi: 10.2147/PGPM.S380908. eCollection 2022.
3
Hirschsprung's disease in children with Mowat-Wilson syndrome.
Pediatr Surg Int. 2015 Aug;31(8):711-7. doi: 10.1007/s00383-015-3732-x. Epub 2015 Jul 9.

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2
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.
3
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
J Pediatr. 2011 Jan;158(1):142-8, 148.e1. doi: 10.1016/j.jpeds.2010.07.027. Epub 2010 Sep 16.
5
Mowat-Wilson syndrome.
Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42.
6
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Hum Mutat. 2007 Apr;28(4):313-21. doi: 10.1002/humu.20452.
7
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25.
9
Mowat-Wilson syndrome.
J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305.

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