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A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.

Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.

Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A girl with a rare skin condition improved after one month of treatment with acitretin.

Netherton's syndrome may have a familial link and doesn't always include atopy.

Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

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.

Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.