Associated Papers
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP et al.
Endocrine Connections, 2023
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A et al.
American Journal of Human Genetics, 2019
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