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

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

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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Phenotype and genotype of 87 p ...... and recommendations for care.

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Phenotype and genotype of 87 p ...... and recommendations for care.

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Phenotype and genotype of 87 p ...... and recommendations for care.

@en

Phenotype and genotype of 87 p ...... and recommendations for care.

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Phenotype and genotype of 87 p ...... and recommendations for care.

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Phenotype and genotype of 87 p ...... and recommendations for care.

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P1476

Phenotype and genotype of 87 p ...... and recommendations for care.

@en

P2093

Agata Fiumara

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Alessandra Renieri

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Alessandro Iodice

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Alessandro Pellicciari

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Allan Bayat

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Andrea Conidi

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Angelo Selicorni

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Anna Luchetti

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Aurelien Trimouille

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Baris Malbora

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P2860

Mowat-Wilson syndrome

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

P2888

gim.2017.221

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965-975

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scholarly article

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10.1038/GIM.2017.221

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English

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P478

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Paola Francesca Ajmone

Christiane Zweier

Magdalena Badura-Stronka

Anna Kutkowska-Kazmierczak

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2018-01-04T00:00:00Z

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1100166132

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29300384

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