Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. (Q34050968)

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9 February 2020

title

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome (English)

1 reference

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ectodermal dysplasia-syndactyly syndrome

9 February 2020

main subject

syndactyly

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1 reference

14

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9 February 2020

Bruno Dallapiccola

20

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9 February 2020

Emanuele Agolini

7

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9 February 2020

Emanuele Agolini

8

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9 February 2020

Alfredo Rossi

12

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9 February 2020

Sigmar Stricker

17

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9 February 2020

16

Stefan Mundlos

1 reference

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9 February 2020

15

Giandomenico Palka

1 reference

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9 February 2020

author name string

Francesco Brancati

1

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9 February 2020

Paola Fortugno

2

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9 February 2020

Irene Bottillo

3

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9 February 2020

Marc Lopez

4

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9 February 2020

Emmanuelle Josselin

5

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9 February 2020

Omar Boudghene-Stambouli

6

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9 February 2020

Laura Bernardini

9

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9 February 2020

Emanuele Bellacchio

10

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9 February 2020

Miriam Iannicelli

11

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9 February 2020

Amina Dib-Lachachi

13

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Uwe Kornak

18

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Giovanna Zambruno

19

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9 February 2020

language of work or name

English

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publication date

1 August 2010

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9 February 2020

number of pages

9

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American Journal of Human Genetics

inferred from page(s)

published in

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volume

87

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9 February 2020

issue

2

1 reference

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9 February 2020

page(s)

265-273

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Sculpturing digit shape by cell death.

9 February 2020

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5 July 2018

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5 July 2018

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

5 July 2018

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5 July 2018

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5 July 2018

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SIFT: Predicting amino acid changes that affect protein function

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The expression of nectin-1alpha in normal human skin and various skin tumours

5 July 2018

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5 July 2018

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Sticky business: orchestrating cellular signals at adherens junctions

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

5 July 2018

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5 July 2018

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Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction

5 July 2018

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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

5 July 2018

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Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Syndactyly, ectodermal dysplasia, and cleft lip/palate

5 July 2018

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5 July 2018

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5 July 2018

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28 October 2018

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Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

28 October 2018

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Expression patterns of nectins and afadin during epithelial remodeling in the mouse embryo

28 October 2018

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Association of ectodermal dysplasia and syndactylia

28 October 2018

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Ectodermal dysplasias: how many?

28 October 2018

1 reference

12 December 2020

Ectodermal Dysplasias

1 reference

12 December 2020

Apoptotic cell death in the mouse limb and its suppression in the hammertoe mutant

1 reference

12 December 2020

Rationale and background as basis for a new classification of the ectodermal dysplasias

1 reference

12 December 2020

10.1016/J.AJHG.2010.07.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

20691405

1 reference