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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.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.

Mutations in specific genes cause different types of ectodermal dysplasias.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.

BBS7 is crucial for maintaining healthy gums by regulating important signaling pathways.

Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

BBS7 is essential for healthy gums by supporting cell movement and blood flow.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.

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

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

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

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

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

Two new gene mutations cause a rare hair disorder.

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

Rushton's hyaline bodies form from hair keratin and blood substances.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.

Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.

A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.

A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.