A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydrone...

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Detalles Bibliográficos
Autores principales: Takahashi, Kiichi, Adachi, Hiroyuki, Toyono, Manatomo, Ito, Masato, Kato, Akie, Noguchi, Atsuko, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475762/
https://www.ncbi.nlm.nih.gov/pubmed/32908725
http://dx.doi.org/10.1155/2020/1731720

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