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The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.

The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.

A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.

A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

A young man with high-grade prostate cancer had successful surgery and good recovery, highlighting the need for awareness in younger men.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.

The rash on the infant indicated a serious underlying condition.

Precocious puberty can signal familial adenomatous polyposis.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.

Genetic mutations can affect female sexual development, requiring personalized medical care.

New genes and pathways are important for testosterone production and male sexual development.

Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.

AMH helps estimate ovarian reserve but doesn't predict pregnancy chances; age is more important.

Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.