机译:myhre综合症:一种家族复发和扩大表型谱
Center for Medical GeneticsGhent University HospitalGhent Belgium;
Center for Medical GeneticsGhent University HospitalGhent Belgium;
Center for Medical GeneticsGhent University HospitalGhent Belgium;
Department of Biomedical Molecular BiologyGhent UniversityGhent Belgium;
Department of Head Neck and Maxillofacial SurgeryGhent University HospitalGhent Belgium;
Department of CardiologyGhent University HospitalGhent Belgium;
Center for Medical GeneticsGhent University HospitalGhent Belgium;
Department of Pediatric CardiologyGhent University HospitalGhent Belgium;
Department of Orthopedic SurgeryGhent University HospitalGhent Belgium;
Department of Pediatric CardiologyGhent University HospitalGhent Belgium;
Center for Medical GeneticsGhent University HospitalGhent Belgium;
(assisted) reproduction; elastinopathy; Myhre syndrome; phenotypic spectrum; TEM imaging;
机译:myhre综合症:一种家族复发和扩大表型谱
机译:FGFR2相关颅突神经综合征的非典型皮肤表现拓宽了表型谱
机译:FGFR2中的非典型皮肤表现形式 - 相关的颅骨症综合征促进了表型光谱
机译:模拟研究3型长QT综合征和Brugada综合征的SCN5A中的E1784K突变和表型重叠
机译:西雅图癌症护理联盟对家族性结直肠癌综合征的通用筛查:参与实施的提供者的定性研究和第一波测试的患者经验
机译:扩大INPP5E表型谱:综合征和非综合征IRD中的罕见变体检测
机译:肢端综合征中的从头GLI3突变:扩大GLI3缺陷的表型谱并与鼠模型重叠