An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

Valeria Paganelli; Mara GIORDANO; Cristina Meazza; Lucia Schena; Mauro Bozzola

doi:10.1177/2050313X17693967

An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

Valeria Paganelli
, Mara GIORDANO
, Cristina Meazza
, Lucia Schena
, Mauro Bozzola

Department of Health Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	2050313X17693967
Journal	SAGE Open Medical Case Reports
Volume	5
DOIs	https://doi.org/10.1177/2050313X17693967
Publication status	Published - 1 Jan 2017

Keywords

2p11.2 deletion
facial dysmorphisms
short stature
speech delay

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10.1177/2050313X17693967

http://hdl.handle.net/11579/85220

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title = "An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report",

abstract = "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.",

keywords = "2p11.2 deletion, facial dysmorphisms, short stature, speech delay, 2p11.2 deletion, facial dysmorphisms, short stature, speech delay",

author = "Valeria Paganelli and Mara GIORDANO and Cristina Meazza and Lucia Schena and Mauro Bozzola",

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T1 - An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

AU - Paganelli, Valeria

AU - GIORDANO, Mara

AU - Meazza, Cristina

AU - Schena, Lucia

AU - Bozzola, Mauro

PY - 2017/1/1

Y1 - 2017/1/1

N2 - 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.

AB - 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.

KW - 2p11.2 deletion

KW - facial dysmorphisms

KW - short stature

KW - speech delay

KW - 2p11.2 deletion

KW - facial dysmorphisms

KW - short stature

KW - speech delay

UR - https://iris.uniupo.it/handle/11579/85220

U2 - 10.1177/2050313X17693967

DO - 10.1177/2050313X17693967

M3 - Article

SN - 2050-313X

VL - 5

SP - 2050313X17693967

JO - SAGE Open Medical Case Reports

JF - SAGE Open Medical Case Reports

ER -

An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

Abstract

Keywords

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