research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
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research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research An Unusual Presentation of Vitamin D Dependent Rickets Type 2 with Low 25(OH)D3 Levels and Alopecia: A Case Report of Two Siblings
Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
research A Rare Case of Vitamin D Dependent Rickets Type II: A Case Report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Successful Induction of Oral Tolerance in Netherton Syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Dermatophytic Disease: Exuberant Hyperkeratosis with Cutaneous Horns
Antifungal treatment can improve severe skin infections with cutaneous horns.
research Erythromelanosis Follicularis Faciei Et Colli With Reticulated Hyperpigmentation Of The Extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Marie-Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Faculty Opinions Recommendation of Association of Topical Minoxidil with Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
research New Familial Association Between Ocular Coloboma and Loose Anagen Syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.