Phenotypic comparison between patients with
deletions and patients with RAI1 mutations show that 21 of 30
SMS features are the result of
haploinsufficiency of RAI1, whereas cardiac anomalies,
speech and motor delay, hypotonia, short
stature, and hearing loss are
associated with 17p11.2 deletions rather than RAI1 mutations
(P<.05). [2006]
Notes by chiroted:
Relationship between Metallothionein, visceral endoderm, and speech, motor dely, hypotonia, short statue, and hearing loss!!!