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Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Trichothiodystrophy causes unusual hair and developmental issues.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

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

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

Trichoscopy is a helpful tool for diagnosing Netherton syndrome.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

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

NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.

Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.

Trichoscopy can diagnose Netherton syndrome without pulling hairs.

A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.

Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.

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