A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
about
Mowat-Wilson syndromeZFHX1B mutations in patients with Mowat-Wilson syndrome.Gene expression patterns in the hippocampus during the development and aging of Glud1 (Glutamate Dehydrogenase 1) transgenic and wild type miceMowat-Wilson syndrome in a Moroccan consanguineous familyTranscription factor pathways and congenital heart disease.Clinical utility gene card for: Mowat-Wilson syndromeHirschsprung's disease in children with Mowat-Wilson syndrome.ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
P2860
Q21202963-5F22D0F3-821E-4906-B80A-B60632959C01Q34597855-B8B6AE19-60D8-4E48-82FA-97DE95EA360CQ35110393-FCE865E0-9876-4E55-B7F8-3B680C5A4BFAQ35199817-1DB9245F-58C0-43F0-BADE-AC1C74644AB8Q37997218-E0825DA9-8779-47EA-BF15-E4E2178EC733Q38413219-7FEE48F8-C208-4A90-B72A-D11563BD6CEEQ38544230-9087282D-E6BB-4ACD-900F-3C626BB4C11AQ39184479-5806780B-CBD9-469E-B760-4FC9A40C3E23Q39424387-1E27F796-8628-4B2B-AE75-1E0FFBA7222CQ47210500-A0A17093-1CCC-4483-B46C-1C94F7198132Q51894065-CF0703A0-4B69-48A7-AC99-4400CDF8389CQ51904000-52962761-DCA6-4C5F-A805-F73F143C7CFDQ56266848-4457BEE9-6122-46BA-8CA3-B4C6D43BD31A
P2860
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@en
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@nl
type
label
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@en
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@nl
prefLabel
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@en
A missense mutation in the ZFH ...... wat-Wilson syndrome phenotype.
@nl
P2093
P356
P1476
A missense mutation in the ZFH ...... owat-Wilson syndrome phenotype
@en
P2093
Anita Rauch
Annegret Kujat
Sibylle Strenge
Steffen Syrbe
Ursula G Froster
Volker Schuster
Wolfram Heinritz
P304
P356
10.1002/AJMG.A.31267
P407
P577
2006-06-01T00:00:00Z