research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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30 / 1000+ resultsresearch Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
research Finasteride Use During Pregnancy and Early Neonatal Outcome: A Case Report
Baby born healthy despite mom taking finasteride, but more research needed.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
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 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 TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Clinical Case Notes: Tamoxifen Optic Neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Clinical Case Notes: Lipoid Proteinosis - A Rare Disorder with Pathognomonic Lid Lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Clinical Case Notes: Propecia-Associated Bilateral Cataract
Taking Propecia might lead to the development of cataracts.
research Clinical Case Notes: Castleman's Disease of the Lacrimal Gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research Clinical Case Notes: Malignant Melanoma in Eviscerated Eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Clinical Case Notes: Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy
Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
research Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome
Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Uncombable-Hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research A Case of Hemi-Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
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.