Search

everythinglearnresearchcommunity

for

Search:↓

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.

A boy with a rare skin condition improved quickly after starting zinc supplements.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

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.

Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.

Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.

A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.

Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Monilethrix causes fragile, patchy hair loss.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.

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

People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.

Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

English springer spaniels are more prone to severe sebaceous adenitis than standard poodles.

Researchers found a new mutation causing total hair loss from birth.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.