Mowat-Wilson syndrome in a Moroccan consanguineous family (Q35199817)

7 August 2017

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Mowat-Wilson syndrome in a Moroccan consanguineous family (English)

1 reference

7 August 2017

Mowat-Wilson syndrome

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Ilham Ratbi

1

1 reference

7 August 2017

Chafai Siham Elalaoui

2

1 reference

7 August 2017

Moal Florence Dastot-Le

3

1 reference

7 August 2017

Michel Goossens

4

1 reference

7 August 2017

Irina Giurgea

5

1 reference

7 August 2017

Abdelaziz Sefiani

6

1 reference

7 August 2017

1 September 2007

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Indian Journal of Human Genetics

7 August 2017

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7 August 2017

13

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7 August 2017

3

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7 August 2017

122-124

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

ZFHX1B mutations in patients with Mowat-Wilson syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

28 July 2018

Mowat-Wilson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

Clinical features and management issues in Mowat-Wilson syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

Clinical and mutational spectrum of Mowat-Wilson syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168139

26 September 2018

Identifiers

DOI

10.4103/0971-6866.38988

1 reference

7 August 2017

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7 August 2017

1 reference