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

Internet

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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