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New mutations in hair keratin genes cause the rare hair disorder monilethrix.

Vitamin B12 deficiency can cause darkening of all nails.

The patient's hair has unique structural differences with alternating bright and dark bands.

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

Alopecia areata patients have eye issues and need regular eye exams.

Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.

Visual field defects in lupus nephritis can be caused by hypertensive retinopathy, not glaucoma or medication toxicity.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.

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

Loose anagen hair syndrome in children often resolves on its own.

Monilethrix causes brittle hair and hair loss, and it runs in families.

A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.

Amelanotic melanocytes from hair follicles are immature and likely don't transfer melanosomes to keratinocytes.

Stem cells in the cornea show unexpected flexibility and have important implications for medicine.

A boy's hair turned red because of genetic mutations, not lack of zinc.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Accurate diagnosis and understanding of alopecia areata in children are crucial for proper treatment.

Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.

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

Vitamin B12 deficiency can cause facial dark spots that go away with treatment.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.