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Last Updated: 10/31/2025

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Found 24 publications

The variant c.1670G>A in the SREBF1 gene is associated with unusual clinical manifestations of IFAP syndrome.

The variant c.1670G>A in the SREBF1 gene is associated with unusual clinical manifestations of IFAP syndrome.

Journal: European journal of dermatology : EJD
Published: February 06, 2025

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: March 20, 2024

Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia.

Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: November 09, 2023

Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation.

Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation.

Journal: Cornea
Published: March 14, 2023

Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.

Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.

Journal: Pediatric dermatology
Published: March 20, 2021

Alopecia in hereditary mucoepithelial dysplasia.

Alopecia in hereditary mucoepithelial dysplasia.

Journal: Journal of cutaneous pathology
Published: March 16, 2021

Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants.

Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants.

Journal: The Journal of investigative dermatology
Published: August 23, 2020

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.

Journal: American journal of medical genetics. Part A
Published: May 06, 2020

Palatal Erythema with Histological Psoriasiform Pattern: An Enigmatic Oral Finding Shared by a Range of Conditions.

Palatal Erythema with Histological Psoriasiform Pattern: An Enigmatic Oral Finding Shared by a Range of Conditions.

Journal: Head and neck pathology
Published: November 13, 2019

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.

Journal: The Journal of investigative dermatology
Published: September 09, 2019

Alveolar epithelial disintegrity in pulmonary fibrosis.

Alveolar epithelial disintegrity in pulmonary fibrosis.

Journal: American journal of physiology. Lung cellular and molecular physiology
Published: March 18, 2016

Hereditary mucoepithelial dysplasia and severe respiratory distress.

Hereditary mucoepithelial dysplasia and severe respiratory distress.

Journal: Respiratory medicine case reports
Published: August 04, 2015
Showing 1-12 of 24

Last Updated: 10/31/2025