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A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Cantú syndrome is caused by mutations in the ABCC9 gene.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

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

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

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

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Researchers found a new mutation causing total hair loss from birth.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

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 new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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

A rare genetic mutation found in an Indian family can be detected through prenatal screening.