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

A mutation in the KRTHB5 gene causes hair and nail issues.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

Specific keratin gene mutations can cause monilethrix.

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

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

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.

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

Dermatologists should be involved in the care of hematology patients due to common skin issues.

CARASIL can cause different symptoms even with the same genetic mutation.

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

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Thallium poisoning can cause serious eye problems and other severe health issues.

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

Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.

Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.

Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.

Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

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

The DQB1*03 allele is linked to higher alopecia areata risk in Italians.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

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

Thallium poisoning can be identified through radiological signs and treated effectively with B.A.L.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.