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Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

Trichothiodystrophy causes unusual hair and developmental issues.

Mice with CBS deficiency are healthier on a low-methionine diet.

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

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.

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

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

TTD symptoms vary widely, requiring thorough evaluations.

The rash on the infant indicated a serious underlying condition.

Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.

A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

A chubby child can still be malnourished.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.

Children with frequent severe infections and low antibodies should be checked for immune deficiencies.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.

Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Mild essential fatty acid deficiency can cause health issues and is worsened by low-fat diets.

New genetic mutations linked to rare skin disorders were found in three newborns.

Early detection and biotin treatment improve outcomes for biotinidase deficiency.

Newborn screening for biotinidase deficiency is effective in preventing severe complications.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.