Associated Papers
Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Chang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Liu M et al.
Molecular Genetics & Genomic Medicine, 2024
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Pacio-Miguez M et al.
American Journal of Medical Genetics. Part A, 2022
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