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A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

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

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

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 genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

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

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

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A new genetic mutation was found causing hair and eye issues in a boy.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

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

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

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

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

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

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

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

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

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

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

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.