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Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

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

Cantú syndrome is caused by mutations in the ABCC9 gene.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

The document explains the genetic causes and characteristics of inherited hair disorders.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

Notch signaling disruptions can cause various skin diseases.

JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.

Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.

Disrupting Acvr1b in mice causes severe hair loss and thicker skin.

A man experienced hair loss from radiotherapy, which can be temporary or permanent depending on radiation dose, with potential treatments available.

Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.

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

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 specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

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

FGF5 gene mutations cause long hair in domestic cats.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.