research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
Search
for
Sort by
Research
330-360 / 1000+ resultsresearch Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research A rare case of chronic genian fistula with oral mucosal hair follicle inclusion: case report and review of the literature
Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Production of artificial synthetic spidroin gene 4S-transgenic cloned sheep embryos using somatic cell nuclear transfer
Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Trichomycosis (trichobacteriosis) axillaris
Shaving, erythromycin cream, and clotrimazole powder effectively treated the bad odor and rough hair.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research A Rare Case of Tinea Capitis in Morocco Due to Trichophyton tonsurans
A Moroccan athlete got a rare scalp infection, stressing the need for better hygiene in sports.
research Arginine Transferase Activity In Homogenates From Guinea-Pig Hair Follicles
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Besnoitiosis in donkeys: an emerging parasitic disease of equids in Italy
Besnoitiosis, a parasitic disease, has been found in donkeys in Italy and may be more common in Europe than previously thought.