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Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.

Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.