Weitere Beispiele werden automatisch zu den Stichwörtern zugeordnet - wir garantieren ihre Korrektheit nicht.
Alstrom syndrome is inherited as an autosomal recessive trait.
Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms.
Thus, Alstrom syndrome is a ciliopathy.
Alstrom Syndrome.
Alstrom syndrome is caused by disruption or defect (mutation) of the ALMS gene.
Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene.
Other known ciliopathies include primary ciliary dyskinesia, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.
ALMS Alstrom-Halgren Syndrome None Alstrom syndrome is a rare genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body.
Some research has shown that mutations in ciliary proteins can lead to other developmental and adult phenotypes such as nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome.