Search

everythinglearnresearchcommunity

for

Search:↓

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

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

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

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.