research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
Search
for
Sort by
Research
810-840 / 1000+ results 
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research An Extract of Leontopodium Alpinum Prolongs Anagen Phase in Human Hair Follicles Ex Vivo
Leontopodium alpinum extract may help reduce hair shedding by keeping hair in the growth phase longer.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Deletion of DNA Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Diagnosis of Polycystic Ovary Syndrome
The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
research Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development
Fatty acid transport protein 4 is essential for skin and hair development.
research Learning From Nudity: Lessons From The Nude Phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research Hair Growth Promoting Effects of Adipose Tissue-Derived Stem Cells
Fat tissue stem cells may help increase hair growth.
research Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Female Pattern Hair Loss in Complete Androgen Insensitivity Syndrome
Hair loss in women may have causes other than hormones.
research RANK as a Therapeutic Target in Cancer
RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Clinical Effects of Non-Ablative and Ablative Fractional Lasers on Various Hair Disorders: A Case Series of 17 Patients
Non-ablative and ablative fractional lasers helped hair growth in some cases without major side effects, but didn't work for all hair disorders.
research Men With Kennedy Disease Have a Reduced Risk of Androgenetic Alopecia
Men with Kennedy disease have less chance of hair loss.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research 5-Alpha Reductase Deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Structure of Human Steroid 5α-Reductase 2 with the Anti-Androgen Drug Finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Congenital Adrenal Hyperplasia: A Review of 21-Hydroxylase Deficiency and Diagnostic Challenges
The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.