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

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

New treatments targeting specific genes show promise for treating keratin disorders.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

A specific gene mutation causes Olmsted syndrome.

Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.

Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

CDH3-related disease causes worsening eye and hair issues.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Isolated patchy heterochromia with pili annulati can occur without other health issues.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.

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

Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.

Valproic acid can cause dark lines on nails.

Genetic variants in CYP genes may worsen PCOS symptoms.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.