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. 2020 Sep 30;26(4):556-558.
doi: 10.5056/jnm20059.

Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease

Maoqiang Tian  1 , Hong Pan  2 , Wenting Lei  1 , Jing Chen  1 , Juan Li  1 , Changhui Lang  1 , Xiaomei Shu  1
Affiliations

Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease

Maoqiang Tian et al. J Neurogastroenterol Motil. .
No abstract available

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Conflict of interest statement

Conflicts of interest: None.

Figures

Figure 1
Figure 1
Abdominal radiographs showing significant bowel dilation with spasming of the distal colon (A, B). Electroencephalogram revealing a cluster of epileptic spasms (C).
Figure 2
Figure 2
Brain MRI scans showing mild (A) and severe (B) pontocerebellar hypoplasia. Sequencing electropherograms illustrating the calcium/calmodulin-dependent serine protein kinase mutation (C).
See this image and copyright information in PMC

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References

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