Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome-Reference-Cited by-同舟云学术

Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome

Published:2018-12-20 Issue:1 Volume:179 Page:130-133
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alkhunaizi Ebba¹²^ORCID,Braverman Nancy³

Affiliation:

1. Department of Clinical and Metabolic Genetics; The Hospital for Sick Children, University of Toronto; Toronto Ontario Canada

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

3. Department of Pediatrics and Medical Genetics; McGill University Health Centre; Montréal Québec Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.60691/fullpdf

Reference22 articles.

1. Dubowitz syndrome: A defect in the cholesterol biosynthetic pathway?;Ahmad;American Journal of Medical Genetics,1999

2. Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of Dubowitz syndrome;Darcy;Case Reports in Genetics,2011

3. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant;Dauber;American Journal of Human Genetics,2013

4. Familial low birthweight dwarfism with an unusual facies and a skin eruption;Dubowitz;Journal of Medical Genetics,1965

5. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature;El Chehadeh;European Journal of Human Genetics,2016

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