Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome-Reference-Cited by-同舟云学术

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

Published:2019-08-24 Issue:10 Volume:179 Page:2112-2118
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Staretz‐Chacham Orna¹²^ORCID,Shukrun Rachel³⁴^ORCID,Barel Ortal⁵,Pode‐Shakked Ben⁴⁶⁷,Pleniceanu Oren³⁴,Anikster Yair⁴⁶,Shalva Nechama⁶,Ferreira Carlos R.⁸,Ben‐Haim Kadosh Admit²,Richardson Justin²,Mane Shrikant M.⁹,Hildebrandt Friedhelm¹⁰^ORCID,Vivante Asaf³⁴⁷¹⁰

Affiliation:

1. Metabolic Clinic, Pediatric Division, Soroka Medical CenterBen‐Gurion University Be'er Sheva Israel

2. Department of Neonatology, Soroka University Medical Center, Faculty of Health SciencesSchool of Medicine, Ben‐Gurion University of the Negev Be'er Sheva Israel

3. Edmond and Lily Safra Children's HospitalSheba Medical Center Ramat‐Gan Israel

4. Sackler School of MedicineTel Aviv University Tel Aviv Israel

5. The Genomic Unit, Sheba Cancer Research CenterSheba Medical Center Tel Hashomer Israel

6. Metabolic Disease UnitEdmond and Lily Safra Children's Hospital, Sheba Medical Center Ramat‐Gan Israel

7. Talpiot Medical Leadership Program, Department of Pediatrics B and Pediatric Nephrology UnitSheba Medical Center Ramat‐Gan Israel

8. Medical Genetics BranchNational Human Genome Research Institute, National Institutes of Health Bethesda Maryland

9. Department of GeneticsYale University School of Medicine New Haven Connecticut

10. Department of MedicineBoston Children's Hospital, Harvard Medical School Boston Massachusetts

Funder

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61334

Reference29 articles.

1. ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy

2. A rare cause of death in infancy: Idiopathic infantile arterial calcification;Amine M.;Pathologica,2015

3. Idiopathic arterial calcification in infancy

4. ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

5. Generalized arterial calcification of infancy: two siblings with prolonged survival

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