期刊： CLINICAL DYSMORPHOLOGY, 2022; 31 (3)
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a......
期刊： CLINICAL DYSMORPHOLOGY, 2022; 31 (1)
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguine......
期刊： CLINICAL DYSMORPHOLOGY, 2021; 30 (1)
Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and......
期刊： CLINICAL DYSMORPHOLOGY, 2020; 29 (2)
Congenital dermoid inclusion cyst (CDIC) over the anterior fontanel is a rare and benign tumor. This study reports nine Chinese cases (three females a......
期刊： CLINICAL DYSMORPHOLOGY, 2018; 27 (2)
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by ab......
期刊： CLINICAL DYSMORPHOLOGY, 2017; 26 (3)
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain......
