Search

everythinglearnresearchcommunity

for

Search:↓

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

The scraggly mutation causes hair loss and skin defects in mice.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

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

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

A mutation in the Sgkl gene causes defective hair growth in mice.

Some prostate cancers have gene changes that may affect treatment with certain drugs.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

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

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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