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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.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

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

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Portable point-of-care testing can improve quick and accurate genetic disorder detection.

The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.

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

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

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

A new mouse mutation causes skin and hair issues, influenced by another gene.

A new mutation in mice causes crooked whiskers and messy hair.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

BLTP1 and KIF27 gene mutations can help breed better wool sheep.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

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.

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

A defective gene causes hair loss and taste insensitivity in BTBR mice.

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

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

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.