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

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

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

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

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

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

The case suggests a possible link between severe acne and certain bone deformities.

MARCKSL1 is important for wound healing and could be a target to reduce scarring.

A new syndrome may link skin, growth, mental, and hair issues.

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

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

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

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

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

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

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

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

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

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

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

X-linked mental retardation includes various syndromes with both mental and physical abnormalities.