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A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

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

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.

Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.

Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

AE can have varied symptoms and genetic causes, but zinc therapy helps.

LSD1 is essential for healthy skin development and creating the skin's protective barrier.

Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.

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

Msx2 deficiency in mice leads to bone growth and organ development problems.

TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.

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