Search

everythinglearnresearchcommunity

for

Search:↓

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.

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

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.

Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.

A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.

A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.

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

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

Björnstad syndrome causes twisted hair from birth.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

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

Two siblings have a rare genetic condition causing curly, coarse hair.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

AGA in children needs careful diagnosis due to low androgen levels and possible other causes.

A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.

Trichofolliculoma was found in a person with amniotic band syndrome for the first time.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

New genetic mutations causing hair loss were found in a Chinese family.

A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.