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The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

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

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.

Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.

Relatives of women with PCOS symptoms are more likely to have similar health issues.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

The patient has a rare skin condition that shows features of two known disorders.

A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.

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

Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.

Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.

A new gene mutation is linked to monilethrix in the studied family.

A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.

CDH3-related disease causes worsening eye and hair issues.

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

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

Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A CCS patient with severe complications was successfully treated using combined therapies.

Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Somatic BHD mutations are rare in Japanese renal tumors.

Two siblings have a rare hair condition caused by a new genetic variant.