Associated Papers
Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.
Slater BA et al.
Clinical Genetics, 2026
Abnormal meibum is associated with SREBF1 mutation and IFAP Syndrome-2.
Butovich IA et al.
Experimental Eye Research, 2026
Abnormal Meibum Is Associated With SREBF1 Mutation And IFAP Syndrome-2.
Butovich IA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A mutation in the SREBF1 gene resulting in autosomal-dominant ichthyosis Follicularis, Atrichia, and photophobia syndrome.
Zheng B et al.
The Journal of Dermatology, 2025
Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.
Sambhariya WS et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.
Wang Q et al.
Molecular Vision, 2025
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
Irurzun I et al.
Pediatric Dermatology, 2021
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
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