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A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

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

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

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

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

Monilethrix is linked to a gene cluster on chromosome 12.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.

A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.

Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A patient with a rare chromosome condition also had a rare type of hair loss.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

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

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

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

Isolated patchy heterochromia with pili annulati can occur without other health issues.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

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