In a first, researchers in the U.S. have identified in a human patient a genetic disorder only previously described in animal models.
About:
The disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1) and is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.
The disorder has still to be named and its long-term effects, which include impacts on the neurological system, are not completely known.
The disorder was first described by researchers in a transgenic mouse model more than 20 years ago.
Dear Student,
You have still not entered your mailing address. Please enter the address where all the study materials will be sent to you. (If applicable).
