Associated Papers
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Treatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib.
Gong Z et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
Lefèvre C et al.
Human Molecular Genetics, 2004
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