research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
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360-390 / 1000+ results research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
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 Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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 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 Trichoscopy in Genetic Hair Shaft Abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Genetics of Alopecia
Different genes are linked to various types of hair loss.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
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 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 Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation
TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.