Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

INTRODUCTION: The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. We report the molecular characterisation of the deletion breakpoint in t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bonaglia, M C, Giorda, R, Mani, E, Aceti, G, Anderlid, B‐M, Baroncini, A, Pramparo, T, Zuffardi, O
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2006
Pynciau:
Letter to JMG
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563164/
https://ncbi.nlm.nih.gov/pubmed/16284256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038604
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