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

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

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

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A specific gene mutation causes severe skin and nail issues and hair loss.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A specific mutation in PA-PLA1α causes abnormal hair growth.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

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

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.

A new gene mutation linked to a skin condition was found in a Spanish family.

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

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

A new mutation in the HR gene causes hair loss in a specific family.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

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