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

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.

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.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

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

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

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

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

Prolactin affects when mice shed and grow hair.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.

Blocking a specific protein signal can make hair grow on mouse nipples.

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

A specific gene mutation causes congenital hair loss.

ARL15 is important for fat cell development and the release of the hormone adiponectin.

IFN-γ and IL-2 are important for T cell activation in hair loss in mice.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.