Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. (Q36222136)

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5 January 2020

review article

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title

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

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1

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Pierre Vabres

3

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author name string

Haftek M

2

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Lepreux S

4

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Goizet C

5

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Leaute-Labreze C

6

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Taieb A

7

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language of work or name

English

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publication date

1 August 2005

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British Journal of Dermatology

5 January 2020

published in

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volume

153

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issue

2

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page(s)

310-318

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New clinical aspects of hereditary mucoepithelial dysplasia

5 January 2020

cites work

1 reference

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

21 January 2018

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Ichthyosis follicularis with alopecia and photophobia.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Topography of mammalian connexins in human skin

21 January 2018

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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

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

21 January 2018

1 reference

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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

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10.1111/J.1365-2133.2005.06664.X

21 January 2018

Identifiers

DOI

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5 January 2020

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