Treacher Collins Syndrome has a variable degree of expression. Often Treacher Collins Syndrome is due to a so called new mutation. To distinguish familial occurence from a new mutations DNA analysis can be performed.
Autosomal dominant inheritance in TCS
17 August 2018
Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...