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Product

De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism.

Center:

TX-LoneStar, LEND

Fiscal Year:

2021

Contact Information:

Mary Kay Koenig
[email protected]
713-500-7164

Product Description:

Here, we present a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the ATPase module of MORC2. Individuals presented with a similar phenotype consisting of developmental delay, intellectual disability, growth retardation, microcephaly, and variable craniofacial dysmorphism.

Keyword(s):

CMT2Z, Leigh-like disease, MORC2, developmental delay, intellectual disability

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Consumers/Families, Professionals, Policymakers, Students

Alternative Format:

To Obtain Copies (URL or Email):

https://pubmed.ncbi.nlm.nih.gov/32693025/

COVID-19 Related Data:

N/A

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