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Central hypoventilation is a significant clinical feature of anti-NMDAR encephalitis.
Some authors considered that the severity of disease could be characterized by lesion size, which is considered as the most significant clinical feature in CL [ 38].
Serum sodium has remained neglected as a significant clinical feature despite being one of the most frequently obtained blood tests in daily clinical practise.
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In practice, we only selected the significant clinical features as the confounding factors in our model.
The significant clinical features are those with P<0.01 in a full model that includes all the confounding features.
Data from the US suggests that in-office education of primary care physicians may be effective in improving awareness of significant clinical features [ 10].
Our case provides additional evidence that, indeed, truncating frameshift mutations in the ASXL3 gene are the cause of a newly recognized distinct disorder characterized by global developmental delay and craniofacial anomalies that shares significant clinical features with Bohring-Opitz syndrome.
In this retrospective study, we analyzed patients' medical information extracted from the EHRs in order to determine the most significant clinical features observed in particular population groups for each genetic test.
Genetic findings and the most significant clinical features of these patients are depicted in Table 1, along with similar data from all previous case reports on children with biallelic NEUROG3 mutations for comparison [ 6, 8– 11].
Firstly, less frequent, but potentially significant, clinical features such as embryonal tumours are not incorporated into the scoring system because there is insufficient data to support their inclusion, and so the scoring system would not be appropriate for patients presenting with a BWS-related tumour.
Interestingly, significant overlapping clinical features between AS and Rett syndrome have long been documented [61].
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