A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia.
Faculty of Public Health, College of Education and Administration, Poznan, Poland.
Slawomir Aleksander
SA
Wisniewski
Wieslaw Henryk
WH
Trzeciak
D000293:Adolescent; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D004439:Eccrine Glands / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D015894:Genome, Human; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D054730:Protein Interaction Domains and Motifs; D017384:Sequence Deletion; D048029:TNF Receptor-Associated Factor 6 / Q000235:genetics*; D053340:Xedar Receptor / Q000235:genetics*
C506011:EDA2R protein, human; D048029:TNF Receptor-Associated Factor 6; D053340:Xedar Receptor