ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference18 articles.
1. Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant;Bellah;J. Pediatr.,1992
2. Structure and function of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family: tidying up diversity;Borza;J. Biol. Chem.,2022
3. Idiopathic infantile arterial calcification: the spectrum of clinical presentations;Chong;Pediatr. Dev. Pathol.,2008
4. ENPP1 mutation causes recessive Cole disease by altering melanogenesis;Chourabi;J. Invest. Dermatol.,2018
5. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases;Chunn;Orphanet J. Rare Dis.,2022
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-07-11
2. Differential effects of the lipidic and ionic microenvironment on NPP1's phosphohydrolase and phosphodiesterase activities;Biochimica et Biophysica Acta (BBA) - Biomembranes;2024-04
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