Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1100166132
P356DOI10.1038/GIM.2017.221
P698PubMed publication ID29300384

P50authorAnita RauchQ21253643
Christiane ZweierQ56753445
Magdalena Badura-StronkaQ57074216
Anna Kutkowska-KazmierczakQ59661577
Rikke S MøllerQ61819699
Luiz Gonzaga ToneQ67478540
Igor PrpićQ71602426
Daniele De BrasiQ73282985
Patrizia AccorsiQ84965914
Robert SmigielQ87708946
Gioacchino ScaranoQ88731864
Goran CuturiloQ90776874
Chiara PantaleoniQ98625012
Ewa ObersztynQ116154537
Annick ToutainQ30170329
Elvis Terci ValeraQ38545263
Krzysztof SzczałubaQ38803523
Bert CallewaertQ41702074
Olivera DjuricQ47210544
Ivan IvanovskiQ47210556
Francesca MariQ47338736
Paola Francesca AjmoneQ55834925
P2093author name stringMartin Zenker
Alessandra Renieri
Didier Lacombe
Livia Garavelli
Koenraad Devriendt
Angelo Selicorni
Francesca Faravelli
Marcella Zollino
Lorenzo Iughetti
Stefano Giuseppe Caraffi
Caterina Lo Rizzo
Alessandro Pellicciari
Baris Malbora
Duccio Maria Cordelli
Francesca Rivieri
Giovanni Sorge
Isabella Mammi
Lucio Giordano
Luigi Tarani
Marina Grasso
Nicoletta Zanotta
Roberta Epifanio
Salvatore Savasta
Simonetta Rosato
Emilia Ricci
Agata Fiumara
Sabine Grønborg
Margaret P Adam
Mary Beth Dinulos
Luigina Spaccini
Vladimir Kuburovic
Stefania Bigoni
Guido Cocchi
Andrea Conidi
Marzia Pollazzon
Ebtesam Abdalla
Maria Antonietta Pisanti
Petra Muschke
Ina Schanze
Alessandro Iodice
Allan Bayat
Anna Luchetti
Aurelien Trimouille
Chiara Baldo
Daniela Santodirocco
Debora Formisano
Federico Bonvicini
Federico Raviglione
Gijs W Santen
Giulia Montorsi
Jens Erik Klint Nielsen
Jeroen Breckpot
Maddalena Baldi
Margherita Silengo
Maria Luisa Poch-Olive
Samantha Schrier Vergano
Sebastien Moutton
Tina Duelund Hjortshøj
P2860cites workMowat-Wilson syndromeQ21202963
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung diseaseQ24291067
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23Q24517956
?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B geneQ56567267
The behavioral phenotype of Mowat-Wilson syndromeQ60491439
Mowat-Wilson syndrome affecting 3 siblingsQ80576963
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 geneQ82592160
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populationsQ87642982
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresQ24535880
A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transitionQ24649050
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entityQ24675887
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndromeQ24676454
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeQ28283452
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsQ31141777
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung diseaseQ34083727
ZFHX1B mutations in patients with Mowat-Wilson syndromeQ34597855
Hirschsprung's disease in children with Mowat-Wilson syndromeQ38544230
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeQ39184479
Smad-interacting protein 1 affects acute and tonic, but not chronic painQ41931806
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.Q43073711
The prevalence and clinical impact of pulmonary artery sling on school-aged children: a large-scale screening studyQ44062173
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA?Q50866521
Clinical features and management issues in Mowat-Wilson syndrome.Q51910142
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.Q51917663
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.Q51920452
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.Q51927092
Clinical and mutational spectrum of Mowat-Wilson syndrome.Q51927513
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Q51948432
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.Q53534782
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.Q54494715
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectMowat-Wilson syndromeQ2757585
P304page(s)965-975
P577publication date2018-01-04
P1433published inGenetics in MedicineQ15765508
P1476titlePhenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
P478volume20

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cites work (P2860)
Q90305392Analysis of gene variants in the GASH/Sal model of epilepsy
Q57640196Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome
Q99575285Zeb2 regulates the balance between retinal interneurons and muller glia by inhibition of BMP-Smad signaling

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