Total: 1 |
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PMID (PMCID) | ||
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23794236 |
FEMALE | |
Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature. | ||
Vignoli A, Scornavacca GF, Peron A, La Briola F, Canevini MP. Am J Med Genet A. 2013;161A(8):2009-15. |
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Variable phenotypes has been reported in patients carrying this deletion, including facial dysmorphisms, intellectual disability/developmental delay, growth retardation and hypotonia, upper limb and cardiac malformations, and Prader-Willi (PWS)-like features. |