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Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic

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......

JIF:0.689

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly

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......

JIF:0.689

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report

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......

Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children

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......

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

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......

JIF:0.76

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review

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......

JIF:0.43

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