Report of two cases of <scp>Schaaf‐Yang</scp> syndrome: Same genotype and different phenotype-Reference-Cited by-同舟云学术

Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype

Published:2023-07-30 Issue:8 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Rodriguez Ana Maria¹^ORCID,Schain Katherine¹,Jayakar Parul¹,Wright Meredith S.²³,Chowdhury Shimul²,Salyakina Daria⁴

Affiliation:

1. Division of Genetics and Metabolism Nicklaus Children's Hospital Pediatric Specialists Miami Florida USA

2. Rady Children's Institute for Genomic Medicine San Diego California USA

3. Keck Graduate Institute Claremont California USA

4. Personalized Medicine & Health Outcomes Research, Nicklaus Children's Hospital Pediatric Specialists Miami Florida USA

Abstract

Key Clinical MessageWe report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7753

Reference25 articles.

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5. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

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