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Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

The condition might be caused by genetic changes after birth.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A girl had two rare hair conditions that helped understand their overlap.

Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.

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

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.

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

Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Neuromyotonia and morphoea can occur together in the same body areas.

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

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.