(Q51799876)

12 April 2018

title

Abnormal lamellar granules in a case of CHILD syndrome. (English)

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12 April 2018

author name string

Masafumi Ishibashi

1

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12 April 2018

Fumio Matsuda

2

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12 April 2018

Hiroshi Oka

3

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12 April 2018

Akira Ishiko

4

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12 April 2018

publication date

1 June 2006

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12 April 2018

Journal of Cutaneous Pathology

published in

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12 April 2018

volume

33

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12 April 2018

issue

6

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12 April 2018

page(s)

447-453

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12 April 2018

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Verruciform xanthoma. Further light and electron microscopic studies, with the addition of a third case

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Cutaneous verruciform xanthoma: a report of five cases investigating the etiology and nature of xanthomatous cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Abnormal Lamellar Granules in Harlequin Ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0303-6987.2006.00470.X

10.1111/J.0303-6987.2006.00470.X

21 January 2018

Identifiers

DOI

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12 April 2018

PubMed ID

16776722

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12 April 2018