Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities-Reference-Cited by-同舟云学术

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Published:2018-11-26 Issue:12 Volume:176 Page:2554-2560
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rodan Lance H.¹²^ORCID,Anyane-Yeboa Kwame³,Chong Karen⁴,Klein Wassink-Ruiter Jolien S.⁵,Wilson Ashley³,Smith Lacey⁶,Kothare Sanjeev V.⁷,Rajabi Farrah¹,Blaser Susan⁸,Ni Min⁹,DeBerardinis Ralph J.⁹¹⁰,Poduri Annapurna²⁶,Berry Gerard T.¹

Affiliation:

1. Division of Genetics and Genomics; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

2. Department of Neurology; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

3. Division of Clinical Genetics, Department of Pediatrics; Columbia University Medical Center; New York New York

4. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology; Mount Sinai Hospital, University of Toronto; Toronto Ontario Canada

5. Department of Genetics; University Medical Center Groningen, University of Groningen; Groningen the Netherlands

6. Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology; Boston Children's Hospital; Boston Massachusetts

7. Department of Neurology; Northwell Health, Zucker School of Medicine at Hofstra/Northwell; New York

8. Division of Neuroradiology; The Hospital for Sick Children, University of Toronto; Toronto Ontario Canada

9. Children's Medical Center Research Institute; University of Texas Southwestern Medical Center; Dallas Texas

10. Howard Hughes Medical Institute, University of Texas Southwestern Medical Center; Dallas Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.60677/fullpdf

Reference17 articles.

1. Use of Eflornithine (DFMO) in the treatment of early Alzheimer's disease: A compassionate use, single-case study;Alber;Frontiers in Aging Neuroscience,2018

2. Transgenic animals modelling polyamine metabolism-related diseases;Alhonen;Essays in Biochemistry,2009

3. Response to medical and novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy;Boyer;Molecular Genetics and Metabolism,2018

4. Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features;Bupp;American Journal of Medical Genetics. Part A,2018

5. Toxic effects of putrescine in rat brain: Polyamines can be involved in the action of excitotoxins;Vera;Amino Acids,1992

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