research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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 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 Polyglandular Autoimmune Syndrome Type 4 with GAD Antibody and Dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research The Role of Pannexin 3 in Bone Biology
Pannexin 3 is important for bone formation and the development of bone cells.
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 Exogenous Testosterone Alone or with Finasteride Increases Physical Performance, Grip Strength, and Lean Body Mass in Older Men with Low Serum Testosterone
Testosterone therapy improves physical function, strength, and body composition in older men with low testosterone levels.
research Body Composition Changes and Inhibition of Fat Development In Vivo Implicate Androgen in Regulation of Stem Cell Lineage Allocation
Androgen is important in controlling stem cell differentiation, reducing fat development, and increasing lean mass.
research Pharmacology of Anabolic Steroids
Anabolic steroids can build muscle and strength but have risks and need more research on their clinical benefits and side effects.
research Androgen Therapy in Women: An Endocrine Society Clinical Practice Guideline
The Endocrine Society advised against routine testosterone therapy for women, citing a need for more research on long-term safety and a clear definition of androgen deficiency.
research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus
The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
research Epigenetic Control of Adult Stem Cell Function
Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.
research Effect of Testosterone Supplementation With and Without a Dual 5α-Reductase Inhibitor on Fat-Free Mass in Men With Suppressed Testosterone Production
Testosterone's muscle-building effects do not require its conversion to DHT.
research Testosterone Supplementation for Aging-Associated Sarcopenia
Testosterone supplements can increase muscle mass and strength in older men with low levels, but long-term effects and risks need more research.
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 Safety of Testosterone Treatment in Postmenopausal Women
Testosterone therapy seems safe for postmenopausal women for a few years, but more research is needed for long-term effects.
research Exogenous Testosterone Alone or With Finasteride Does Not Improve Measurements of Cognition in Healthy Older Men With Low Serum Testosterone
Testosterone with or without finasteride doesn't improve thinking skills in older men with low testosterone.
research Zinc Deficiency and Its Management in the Pediatric Population: A Literature Review and Proposed Etiologic Classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Ovarian Leukocyte Distribution and Cytokine/Chemokine mRNA Expression in Follicular Fluid Cells in Women with Polycystic Ovary Syndrome
Women with PCOS have fewer activated T cells in their ovarian follicles, which might affect fertility.