Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the genotype–phenotype correlations are not well underst...

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Detalles Bibliográficos
Autores principales: Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Ichimoto, Keiko, Naruke, Yuki, Akiyama, Nana, Lim, Sze Chern, Yatsuka, Yukiko, Nitta, Kazuhiro R., Kishita, Yoshihito, Fushimi, Takuya, Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428837/
https://www.ncbi.nlm.nih.gov/pubmed/36061954
http://dx.doi.org/10.1016/j.ymgmr.2022.100912

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