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Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication

The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Syndromol
Autori principali: Pavone, Piero, Corsello, Giovanni, Marino, Silvia, Ruggieri, Martino, Falsaperla, Raffaele
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2019
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6362926/
https://ncbi.nlm.nih.gov/pubmed/30733660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000493174
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