research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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480-510 / 1000+ resultsresearch Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Assessment of a Bidirectional Association Between Major Depressive Disorder and Alopecia Areata
People with Major Depressive Disorder have a higher chance of getting Alopecia Areata, and vice versa; antidepressants may lower this risk.
research Amendments to Organizational Theorizing.
Karl E. Weick suggested focusing on everyday events and smaller groups to improve organizational theory and urged the inclusion of nonobvious aspects for better explanations.
research Retail Insights ‐ Branding
The document concludes that understanding consumer-brand relationships is key for marketing and that perceived quality helps national brands maintain higher prices than store brands.
research Amendments to Organizational Theorizing
Karl E. Weick recommended focusing on everyday events and smaller organizations to improve organizational theory.
research THE ET INTERVIEW: HERMAN BIERENS
Herman Bierens had a successful career in econometrics, contributed to education, and plans to continue research after retirement.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research The effect of treatment with an LH-RH agonist (Buserelin) on gonadal activity growth and bone maturation in children with central precocious puberty
Buserelin safely and effectively suppresses early puberty, potentially improving final height.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Exceptional Clinical Response to Surgery in Somalian Child Affected by Hyper Secretive Adrenal Cortical Carcinoma
The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research P51 Neuropsychiatric lupus, two sides of the same coin
A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.