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Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

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

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

The combined treatment effectively managed severe skin issues in Olmsted syndrome.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

5% topical minoxidil improves hair density and quality in monilethrix patients.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.

Netherton Syndrome can cause severe skin lesions in rare cases.

A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.

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

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.