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Academic Journal

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Subjects: Autism spectrum disorder; Behavioural disorders; Neurocognition

  • Source: ISSN: 1471-2350 ; BMC Medical Genetics ; https://www.hal.inserm.fr/inserm-02305085 ; BMC Medical Genetics, 2017, 18 (1), pp.9. ⟨10.1186/s12881-017-0371-1⟩.

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Academic Journal

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-03490951 ; European Journal of Medical Genetics, 2020, 63, pp.103897 -. ⟨10.1016/j.ejmg.2020.103897⟩.

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