Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene (Q55981940)

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28 January 2020

title

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene (English)

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28 January 2020

1 reference

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10

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28 January 2020

Hans van Bokhoven

13

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11

Han G Brunner

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28 January 2020

author name string

Tuula Rinne

1

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28 January 2020

Emanuela Spadoni

2

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28 January 2020

Klaus W Kjaer

3

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Cesare Danesino

4

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28 January 2020

Daniela Larizza

5

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28 January 2020

Marianne Kock

6

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Kirsi Huoponen

7

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Marja-Liisa Savontaus

8

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Markku Aaltonen

9

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Maila Penttinen

12

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publication date

17 May 2006

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European Journal of Human Genetics

28 January 2020

published in

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volume

14

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28 January 2020

issue

8

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28 January 2020

page(s)

904-910

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ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia

28 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

TP63 gene mutation in ADULT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

Association of p63 with proliferative potential in normal and neoplastic human keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

AIS is an oncogene amplified in squamous cell carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

p63 expression in normal skin and usual cutaneous carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

Pattern of p63 mutations and their phenotypes--update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

ADULT syndrome allelic to limb mammary syndrome (LMS)?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

Tumor predisposition in mice mutant for p63 and p73: evidence for broader tumor suppressor functions for the p53 family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

Nonmelanoma skin cancer in the United States: incidence.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201640

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724007%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 January 2020

1002515229

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