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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書目詳細資料
發表在:Case Rep Genet
Main Authors: Takahashi, Kiichi, Adachi, Hiroyuki, Toyono, Manatomo, Ito, Masato, Kato, Akie, Noguchi, Atsuko, Takahashi, Tsutomu
格式: Artigo
語言:Inglês
出版: Hindawi 2020
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7475762/
https://ncbi.nlm.nih.gov/pubmed/32908725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/1731720
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