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Paper Details

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
55
2020
ATPase, ATPase module, Charcot-Marie-Tooth disease type 2Z, Craniofacial Dysmorphism, Growth Retardation, HUSH complex, Leigh syndrome, MORC2, MORC2 variants, Neurodevelopmental Disorder, Weakness, chromatin, craniofacial dysmorphism, developmental delay, genetic disorders, growth retardation, hyporeflexia, intellectual disability, microcephaly, neuropathy, retinal pigmentary abnormalities, spinal muscular atrophy
Author NameAffiliation
Julie S CohenJohns Hopkins School of Medicine, Kennedy Krieger Institute, USA Center for Genetic Muscle Disorders
Mary Kay KoenigUniversity of Texas McGovern Medical School
Joel B KrierBrigham and Women's Hospital
Adam L NumisUniversity of California san francisco
Carl E StafstromJohns Hopkins School of Medicine
Robert E KingstonMassachusetts General Hospital, Harvard Medical School
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