Search

everythinglearnresearchcommunity

for

Search:↓

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

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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

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.

Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

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

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

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

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A specific gene mutation causes a severe skin disorder in a family.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

HLD10 can include increased body hair and Mongolian spots.

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.

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

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.