Branchio-oto-renal Syndrome

Kidneys, autosomal dominant, Frank Clarke Frase
Herausgegeben:Avery, Iustinus Tim

• Broschiertes Buch

Produktbeschreibung

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Individiduals with BOR may have underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure. Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible. Individuals can have mild to profound hearing loss, which can either be sensorineural, conductive, or mixed. People with BOR may also have cysts or fistulae along the sides of their neck corresponding to the location of the embryologic branchial clefts.BOR is inherited in an autosomal dominant manner, and results from a mutation in the EYA1 gene. Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, andonly one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Produktdetails

• Verlag: Alphascript Publishing / Cel Publishing
• Aufl.
• Seitenzahl: 60
• Englisch
• ISBN-13: 9786138175148
• ISBN-10: 613817514X
• Artikelnr.: 34704570