Report of Two cases of Schaaf-Yang Syndrome: Same Genotype, Different Phenotype
Ana Maria Rodriguez,a MD, Katherine Schain,a MS, CGC, Parul Jayakar,aMD,MS,FACMG, Meredith S. Wright,b,c PhD., Shimul Chowdhury,b PhD., Daria Salyakina,ePhD.
a Division of Genetics and Metabolism, Nicklaus Children’s Hospital Pediatric Specialists, Miami, (FL,) USA.b Rady Children’s Institute for Genomic Medicine, San Diego, (CA,) USA. c Keck Graduate Institute, Claremont, (CA,) USA. d Personalized Medicine & Health Outcomes Research, Nicklaus Children’s Hospital Pediatric Specialists, Miami, (FL,) USA
Corresponding Author: Ana Maria Rodriguez Barreto
Division of Genetics and Metabolism, Nicklaus Children’s Hospital Pediatric Specialists, Miami, (FL,). 3100 SW 62nd Avenue, Miami, FL, 33155, USA. Tel: 786-624-4717. Fax : 786-624-4704. E-mail: anamaria.rodriguezbarreto@nicklaushealth.org
Co-authors: Katherine Schain: Katherine.Schain@Nicklaushealth.org
Parul Jayakar: Parul.Jayakar@Nicklaushealth.org
Meredith S. Wright: MWright3@rchsd.org
Shimul Chowdhury: schowdhury@bluestargenomics.com
Daria Salyakina: Daria.Salyakina@Nicklaushealth.org
Conflicts of Interests Statement: We know of no conflicts of interests associated with this publication, and there has been no significant financial support for this work that could have influenced its outcome. As Corresponding Author, I confirm that the manuscript has been read and approved for submission by all the named authors.
Informed Consent : Written informed consent was obtained from both patients parents.
Ethics Declaration: The study was conducted according to the guidelines of the Declaration of Helsinki and approved by The Institutional Review Board (or Ethics Committee) of Nicklaus Children’s Hospital Pediatric Specialists.