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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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Sonraí Bibleagrafaíochta
Foilsithe in:Mol Syndromol
Main Authors: Pavone, Piero, Corsello, Giovanni, Marino, Silvia, Ruggieri, Martino, Falsaperla, Raffaele
Formáid: Artigo
Teanga:Inglês
Foilsithe: S. Karger AG 2019
Ábhair:
Rochtain Ar Líne: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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