SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE

Risultato della ricerca: Poster

Abstract

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.
Lingua originaleEnglish
Pagine450-450
Numero di pagine1
Stato di pubblicazionePublished - 2019

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Haploinsufficiency
Pedigree
Genotype
Phenotype
Growth

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title = "SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE",
abstract = "SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.",
author = "Giovanni Corsello and Maggio, {Maria Cristina} and Flavia Mule'",
year = "2019",
language = "English",
pages = "450--450",

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TY - CONF

T1 - SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE

AU - Corsello, Giovanni

AU - Maggio, Maria Cristina

AU - Mule', Flavia

PY - 2019

Y1 - 2019

N2 - SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.

AB - SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.

UR - http://hdl.handle.net/10447/390039

M3 - Poster

SP - 450

EP - 450

ER -