Associated Papers
[A new SLC27A4 mutation associated with ichthyosis prematurity syndrome and compartment syndrome].
Saldaña-García N et al.
Anales De Pediatria, 2020
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.
Esperón-Moldes US et al.
Acta Paediatrica (oslo, Norway : 1992), 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
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