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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

A gene mutation in mice causes severe skin disorder similar to a human condition.

A new mouse mutation causes skin and hair defects due to a gene change.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

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

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

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

A new DSG4 gene mutation causes hair defects in a young girl.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

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

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

Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

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

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

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

The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.

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

The SOSTDC1 gene is crucial for determining sheep wool type.

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.

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

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.