Dunedin School of Medicine

Other X linked multiple malformation conditions

Our work on filamin A has meant that our focus on X linked malformations has been a major part of our focus for some years. Some conditions that segregate in families in such a manner that an X linked causation is probable, do not prove to have conditions related to the FLNA gene. We are studying these disorders in the same manner as we addressed the FLNA and FLNB related conditions with the aim of identifying the culpable genes that are mutated to lead to these disorders. Examples of these conditions included osteopathia striata congenita, and X linked acrofacial disostosis.

 

X Linked

 

 

 

University of Otago Dunedin School of Medicine