Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Ueda, Yuki, Imai, Katsumi, Takahashi, Yukitoshi, Imagawa, Eri, Miyake, Noriko, Matsumoto, Naomichi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6053359/
https://ncbi.nlm.nih.gov/pubmed/30083362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0020-z
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