Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

JM Hunter, J Kiefer, CD Balak, S Jooma… - American Journal of …, 2015 - Wiley Online Library
JM Hunter, J Kiefer, CD Balak, S Jooma, ME Ahearn, JG Hall, L Baumbach‐Reardon
American Journal of Medical Genetics Part A, 2015Wiley Online Library
The following is a review of 50 X‐linked syndromes and conditions associated with either
arthrogryposis or other types of early contractures. These entities are categorized as those
with known responsible gene mutations, those which are definitely X‐linked, but the
responsible gene has not been identified, and those suspected from family history to be X‐
linked. Several important ontology pathways for known disease genes have been identified
and are discussed in relevance to clinical characteristics. Tables are included which help to …
The following is a review of 50 X‐linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X‐linked, but the responsible gene has not been identified, and those suspected from family history to be X‐linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions. © 2015 Wiley Periodicals, Inc.
Wiley Online Library