(Q35081096)

6 August 2017

2 references

21 October 2019

6 February 2021

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (English)

1 reference

6 August 2017

2 references

21 October 2019

6 February 2021

1 reference

21 October 2019

1 reference

1 reference

6 February 2021

Hala Mégarbané

1

1 reference

6 August 2017

André Mégarbané

series ordinal

2

1 reference

6 August 2017

language of work or name

1 reference

21 May 2011

8 references

Orphanet Journal of Rare Diseases

6 August 2017

12 March 2019

13 March 2019

22 April 2019

25 April 2019

17 June 2019

21 October 2019

6 February 2021

8 references

6 August 2017

12 March 2019

13 March 2019

22 April 2019

25 April 2019

17 June 2019

21 October 2019

6 February 2021

6

1 reference

6 August 2017

page(s)

29

1 reference

Creative Commons Attribution 2.0 Generic

6 August 2017

copyright license

7 references

12 March 2019

13 March 2019

22 April 2019

25 April 2019

17 June 2019

21 October 2019

on focus list of Wikimedia project

6 February 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-29

0 references

cites work

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

Ichthyosis follicularis with alopecia and photophobia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127745

IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-29

Ichthyosis follicularis with alopecia and photophobia in a mother and daughter

21 January 2018

1 reference

12 December 2020

Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly

1 reference

12 December 2020

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients

1 reference

12 December 2020

Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome

1 reference

12 December 2020

Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome

1 reference

12 December 2020

Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)

1 reference

12 December 2020

Ichthyosis follicularis

1 reference

12 December 2020

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

1 reference

12 December 2020

Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-29

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference