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Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

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

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

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

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Mutations in the HOXC13 gene cause hair and nail development issues.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

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

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

Two new gene mutations cause a rare hair disorder.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.