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MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F, Bisgin A, Yılmaz M. Incecik F, et al. Metab Brain Dis. 2018 Dec;33(6):2065-2068. doi: 10.1007/s11011-018-0313-4. Epub 2018 Sep 23. Metab Brain Dis. 2018. PMID: 30244301 Review.
Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by …
Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutat …
Adaptor protein complexes and intracellular transport.
Park SY, Guo X. Park SY, et al. Biosci Rep. 2014 Jul 29;34(4):e00123. doi: 10.1042/BSR20140069. Biosci Rep. 2014. PMID: 24975939 Free PMC article. Review.
Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome …
Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropat …
Inborn errors of copper metabolism.
Kaler SG. Kaler SG. Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Handb Clin Neurol. 2013. PMID: 23622398 Free PMC article. Review.
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neuropathy. ...In …
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn synd …
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Faghihi F, Khamirani HJ, Zoghi S, Kamal N, Yeganeh BS, Dianatpour M, Bagher Tabei SM, Dastgheib SA. Faghihi F, et al. Eur J Med Genet. 2022 Mar;65(3):104449. doi: 10.1016/j.ejmg.2022.104449. Epub 2022 Feb 7. Eur J Med Genet. 2022. PMID: 35144013 Review.
Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). ...
Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozy …