Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome

Abstract Background Rubinstein–Taybi syndrome (RTS) is a rare autosomal‐dominant disease. Almost all cases are sporadic and attributed to de novo variant. Psychotic symptoms in RTS are rare and have been reported in only a few published cases. On the other hand, 22q11.2 deletion syndrome is the most...

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Principais autores:	Yasuhito Nagai, Masaki Nishioka, Tatsuki Tanaka, Takahisa Shimano, Eiji Kirino, Toshihito Suzuki, Tadafumi Kato
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2022-09-01
coleção:	PCN Reports
Assuntos:	22q11.2 deletion syndrome autism spectrum disorder HERC1 Rubinstein–Taybi syndrome schizophrenia
Acesso em linha:	https://doi.org/10.1002/pcn5.34
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