Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome-Reference-Cited by-同舟云学术

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Published:2011-03-22 Issue:5 Volume:20 Page:447-449
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:

Author:

Oeffner Frank,Martinez Francisco,Schaffer Julie,Salhi Aïcha,Monfort Sandra,Oltra Silvestre,Neidel Ulrike,Bornholdt Dorothea,van Bon Bregje,König Arne,Happle Rudolf,Grzeschik Karl-Heinz

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0625.2010.01238.x/fullpdf

Reference17 articles.

1. Ichthyosis follicularis with alopecia and photophobia

2. Ichthyosis Follicularis

3. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

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

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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. An intronic splice‐site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome;The Journal of Dermatology;2022-12-20

3. Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum;Pediatric Dermatology;2021-03-19

4. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome;The American Journal of Human Genetics;2020-07

5. Mendelian Disorders of Cornification (MEDOC);Harper's Textbook of Pediatric Dermatology;2019-11-20