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Diagnostic exome sequencing in persons with severe intellectual disability

โœ Scribed by Reading, Richard


Book ID
119827241
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
97 KB
Volume
39
Category
Article
ISSN
0305-1862

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ATRX mutation in two adult brothers with
โœ Moncini, S.; Bedeschi, M.F.; Castronovo, P.; Crippa, M.; Calvello, M.; Garghenti ๐Ÿ“‚ Article ๐Ÿ“… 2013 ๐Ÿ› Elsevier ๐ŸŒ English โš– 447 KB

In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype, subte