An intragenic deletion within intron 7 in a boy with short stature and speech delay: A case report

Background/Objectives: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. Results: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-...

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Bibliographic Details
Main Authors: Valeria Paganelli, Mara Giordano, Cristina Meazza, Lucia Schena, Mauro Bozzola
Format: Article
Language:English
Published: SAGE Publishing 2017-02-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X17693967