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

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

A specific gene mutation causes woolly hair and hair loss.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

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

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

Uncombable hair syndrome is linked to Zellweger syndrome.

A KRT32 gene variant causes loose anagen hair syndrome.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

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

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

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

The twins' condition is unique and doesn't match any known syndromes.

A mutation in the KRT25 gene causes woolly hair and hair loss.