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

We 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...

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Detalles Bibliográficos
Autores principales: Rodriguez, Ana Maria, Schain, Katherine, Jayakar, Parul, Wright, Meredith S., Chowdhury, Shimul, Salyakina, Daria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387585/
https://www.ncbi.nlm.nih.gov/pubmed/37529132
http://dx.doi.org/10.1002/ccr3.7753
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author Rodriguez, Ana Maria
Schain, Katherine
Jayakar, Parul
Wright, Meredith S.
Chowdhury, Shimul
Salyakina, Daria
author_facet Rodriguez, Ana Maria
Schain, Katherine
Jayakar, Parul
Wright, Meredith S.
Chowdhury, Shimul
Salyakina, Daria
author_sort Rodriguez, Ana Maria
collection PubMed
description We 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.
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spelling pubmed-103875852023-08-01 Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype Rodriguez, Ana Maria Schain, Katherine Jayakar, Parul Wright, Meredith S. Chowdhury, Shimul Salyakina, Daria Clin Case Rep Case Report We 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. John Wiley and Sons Inc. 2023-07-30 /pmc/articles/PMC10387585/ /pubmed/37529132 http://dx.doi.org/10.1002/ccr3.7753 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Rodriguez, Ana Maria
Schain, Katherine
Jayakar, Parul
Wright, Meredith S.
Chowdhury, Shimul
Salyakina, Daria
Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title_full Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title_fullStr Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title_full_unstemmed Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title_short Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
title_sort report of two cases of schaaf‐yang syndrome: same genotype and different phenotype
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387585/
https://www.ncbi.nlm.nih.gov/pubmed/37529132
http://dx.doi.org/10.1002/ccr3.7753
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