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A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Scalp cooling prevented hair loss in half of the patients, despite significant side effects.

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

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

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

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

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

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

A gene mutation causes monilethrix in a Chinese family.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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

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

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.