KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically overlapping syndromes caused by truncating sequence...

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Detalles Bibliográficos
Autores principales: Zhu, Liuyan, Lv, Lina, Wu, Dingwen, Shao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190791/
https://www.ncbi.nlm.nih.gov/pubmed/32391291
http://dx.doi.org/10.3389/fped.2020.00124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190791/
https://www.ncbi.nlm.nih.gov/pubmed/32391291
http://dx.doi.org/10.3389/fped.2020.00124

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