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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.

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

BMP5 is essential for ear cartilage cell growth in rodents.

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.

A new DSG4 gene mutation causes hair defects in a young girl.

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

KID syndrome should be reclassified as an ectodermal dysplasia.

Two cows had a rare hair disorder causing hair loss but were otherwise healthy.

Cantú syndrome may be linked to pituitary adenomas.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

The treatment improved facial structure and corrected bite issues in patients.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A 4-year-old girl has a rare hair condition causing fragile, short hair.

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

The twins' condition is unique and doesn't match any known syndromes.

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

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

The condition might be caused by genetic changes after birth.