Hereditary Mucoepithelial Dysplasia Latest Advances

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

Journal: Clinical genetics

Published: November 24, 2025

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.

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.

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.

Journal: Cornea

Published: March 14, 2023

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.

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.

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.

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.

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.

Journal: The Journal of investigative dermatology

Published: September 09, 2019

Alveolar epithelial disintegrity in pulmonary fibrosis.

Journal: American journal of physiology. Lung cellular and molecular physiology

Published: March 18, 2016

Hereditary Mucoepithelial Dysplasia Latest Advances

Find the Latest Research About Hereditary Mucoepithelial Dysplasia

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

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.

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.

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

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

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.

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.

Alopecia in hereditary mucoepithelial dysplasia.

Alopecia in hereditary mucoepithelial dysplasia.

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.

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.

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.

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.

Alveolar epithelial disintegrity in pulmonary fibrosis.

Alveolar epithelial disintegrity in pulmonary fibrosis.