research Familial Sexual Precocity
Familial sexual precocity in girls may be more common than previously thought.
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660-690 / 1000+ resultsresearch Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Polycystic ovarian syndrome: Prevalence and its correlates among adolescent girls
About 15% of adolescent girls in a region of India have Polycystic Ovarian Syndrome, which is more common in those born by cesarean, with wisdom teeth, or with central obesity.
research Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study
Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Hair tourniquet syndrome in an infant
A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research A case of pili torti in a young adult domestic short-haired cat
A young cat had a rare hair condition with twisted hair shafts but stayed healthy.
research The Use of 2D: 4D Digit Ratio as a Predictor of Androgenetic Alopecia: A Review
Finger length ratios might help predict common hair loss.
research A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
research Multiple skin tumours in a Doberman Pinscher with colour dilution alopecia
The Doberman had multiple skin tumors, but it's unclear if color dilution increased the risk.
research Adult Patients with Aphallia: Were they Fertile?
The document does not determine if adults with aphallia are fertile.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.