(Q36222136)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086741%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

review article

1 reference

title

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086741%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1

1 reference

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5 January 2020

Pierre Vabres

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086741%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Haftek M

2

1 reference

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5 January 2020

Lepreux S

4

1 reference

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5 January 2020

Goizet C

5

1 reference

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5 January 2020

Leaute-Labreze C

6

1 reference

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5 January 2020

Taieb A

7

1 reference

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5 January 2020

language of work or name

English

0 references

publication date

1 August 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086741%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

5 January 2020

published in

1 reference

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5 January 2020

volume

153

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5 January 2020

issue

2

1 reference

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5 January 2020

page(s)

310-318

1 reference

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New clinical aspects of hereditary mucoepithelial dysplasia

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Ichthyosis follicularis with alopecia and photophobia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Keratosis follicularis spinulosa decalvans. Report of two cases and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Topography of mammalian connexins in human skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06664.X

10.1111/J.1365-2133.2005.06664.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086741%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference