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

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Two sisters had a rare hair condition without other usual symptoms.

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 girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

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

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Trichothiodystrophy causes unusual hair and developmental issues.

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

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

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

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.

A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

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

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

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

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.