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Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

FGF13 gene changes cause excessive hair growth in a rare condition.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

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

Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

PCOS involves genetic and immune factors, especially T cells, affecting its development.

A woman's mature cystic teratoma caused her virilization by producing testosterone.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

ADAM17 could be a potential target for treating PCOS.