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A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

Thyroid dysfunction can cause heart issues, and bedside ultrasound helps diagnose cardiac arrest causes.

Danon disease can be hard to diagnose due to non-specific symptoms.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Mutations in the LIPH gene cause woolly hair in a child.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

Minoxidil can cause heart muscle damage in dogs.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

Studying rare genetic disorders can help us understand and treat common diseases better.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Myotonic dystrophy may be classified as a segmental progeroid disorder.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

An 80-year-old man with COVID-19 also had constrictive pericarditis, possibly due to an autoimmune or immunoglobulin related disease, and improved after surgery.

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

A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.

A new genetic mutation was found causing hair and eye issues in a boy.

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

PKM2 is a promising target for heart repair and regeneration.

LIPH mutations cause woolly hair in some Chinese people.

A genetic variant in the KRT25 gene causes tightly curled hair.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.