(Q43533170)

24 November 2017

title

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan (English)

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24 November 2017

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Van der Woude syndrome

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S Malik

1

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24 November 2017

E R Wilcox

series ordinal

2

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24 November 2017

S Naz

series ordinal

3

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24 November 2017

language of work or name

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24 June 2013

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24 November 2017

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24 November 2017

volume

85

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24 November 2017

issue

5

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24 November 2017

page(s)

487-491

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Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

24 November 2017

cites work

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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

21 January 2018

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Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

21 January 2018

1 reference

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

21 January 2018

1 reference

An efficient procedure for genotyping single nucleotide polymorphisms.

21 January 2018

1 reference

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

21 January 2018

1 reference

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment

21 January 2018

1 reference

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

21 January 2018

1 reference

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12207

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24 November 2017

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