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Permanent hair loss from chemotherapy significantly impacts patients' mental health and social life, highlighting the need for better patient education and support.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

A specific gene mutation causes Olmsted syndrome.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

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

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

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

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

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

HLD10 can include increased body hair and Mongolian spots.

The twins' condition is unique and doesn't match any known syndromes.

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

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

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

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

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

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

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.