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

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.

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

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.

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.

A gene mutation causes woolly hair in a Syrian patient.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.