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Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.

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.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A specific gene mutation causes congenital hair loss.

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

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

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

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

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A gene mutation in mice causes skin defects and early death.

A girl had rickets due to a gene mutation affecting vitamin D response.

A mutation in the Sgkl gene causes defective hair growth in mice.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

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

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

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

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

Deleting the CDSN gene causes severe skin and hair problems, leading to death.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.