Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intr...

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Detalles Bibliográficos
Autores principales: Sakaria, Rishika P., Zaveri, Parul G., Holtrop, Shannon, Zhang, Jie, Brown, Chester W., Pivnick, Eniko K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660850/
https://www.ncbi.nlm.nih.gov/pubmed/34899850
http://dx.doi.org/10.3389/fgene.2021.766316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660850/
https://www.ncbi.nlm.nih.gov/pubmed/34899850
http://dx.doi.org/10.3389/fgene.2021.766316

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