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- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Management of congenital ichthyoses: European guidelines of care, part two
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Diseases of Periocular Hair
- Genetics of Inherited Ichthyoses and Related Diseases
- TONGUE, RED
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Keratosis follicularis spinulosa decalvans in a female
- Xiaozhi Yufa decoction ameliorates androgenetic alopecia through inhibition of MAPK signaling and regulation of lipid metabolism
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
- Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
- Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis