Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
两个家族中的结缔组织表现扩大了 PYROXD1 疾病的表型谱
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddad035
Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper
