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Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

Haemochromatosis can cause infertility by affecting hormone glands.

An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

The case emphasizes the need for careful screening in children for insulin resistance and related conditions.

Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.

Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

The man's symptoms improved and the tumor shrank after treatment with cabergoline.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

Neuromyotonia and morphoea can occur together in the same body areas.

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

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.

The patient was diagnosed with hypothyroidism and treated with medication and supplements.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.

Patients with Type 1 diabetes should be screened for pernicious anemia.

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

Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.

A new syndrome may link skin, growth, mental, and hair issues.

Acute illnesses like sepsis can disrupt thyroid hormone balance without central hypothyroidism.

Hypothyroidism may worsen metabolic problems like insulin resistance and obesity in women with PCOS.