Associated Papers
Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype.
Tian W et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype.
Xie M et al.
Alternative Therapies in Health and Medicine, 2024
Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.
Nohara T et al.
Journal of Dermatological Science, 2022
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM et al.
The British Journal of Dermatology, 2017
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.
Ohno Y et al.
Nature Communications, 2017
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