Schaaf-Yang syndrome overview: Report of 78 individuals-Reference-Cited by-同舟云学术

Schaaf-Yang syndrome overview: Report of 78 individuals

Published:2018-10-10 Issue:12 Volume:176 Page:2564-2574
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

McCarthy John¹,Lupo Philip J.²,Kovar Erin²,Rech Megan³⁴,Bostwick Bret⁴,Scott Daryl⁴⁵,Kraft Katerina⁶,Roscioli Tony⁷⁸,Charrow Joel⁹¹⁰,Schrier Vergano Samantha A.¹¹^ORCID,Lose Edward¹²,Smiegel Robert¹³,Lacassie Yves¹⁴^ORCID,Schaaf Christian P.¹³⁴¹⁵¹⁶^ORCID

Affiliation:

1. Institute of Human Genetics; University Hospital Cologne; Köln Germany

2. Department of Pediatrics; Baylor College of Medicine; Houston Texas

3. Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital; Houston Texas

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

5. Department of Molecular Physiology and Biophysics; Baylor College of Medicine; Houston Texas

6. Department of Human Molecular Genetics; Max Planck Institute for Molecular Genetics; Berlin Germany

7. Department of Clinical Genetics; Sydney Children's Hospital; Sydney Australia

8. Neuroscience Research Australia (NeuRA); University of New South Wales; Sydney Australia

9. Division of Genetics, Birth Defects and Metabolism; Ann & Robert H. Lurie Children's Hospital of Chicago; Chicago Illinois

10. Department of Pediatrics; Northwestern University Feinberg School of Medicine; Chicago Illinois

11. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters; Norfolk Virginia

12. Department of Genetics; University of Alabama at Birmingham; Birmingham Alabama

13. Department of Social Pediatrics; Wroclaw Medical University; Poland

14. Department of Pediatrics; LSU Health Sciences Center and Children's Hospital; New Orleans Louisiana

15. Center for Molecular Medicine Cologne; University of Cologne; Köln Germany

16. Center for Rare Diseases; University Hospital Cologne; Köln Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40650/fullpdf

Reference38 articles.

1. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome;Bar;Orphanet Journal of Rare Diseases,2017

2. Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - expanding the phenotypic spectrum;Bayat;European Journal of Medical Genetics,2018

3. Autism spectrum disorder in Prader-Willi syndrome: A systematic review;Bennett;American Journal of Medical Genetics. Part A,2015

4. Prader-Willi syndrome: Is there a recognizable fetal phenotype;Bigi;Obstetrics and Gynaecology Prenatal Diagnosis,2008

5. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome;Bischof;Human Molecular Genetics,2014

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