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

Giovanni Corsello; Maria Cristina Maggio; Flavia Mule'

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

Giovanni Corsello, Maria Cristina Maggio, Flavia Mule'

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Research output: Contribution to conference › Poster › peer-review

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.

Original language	English
Pages	450-450
Number of pages	1
Publication status	Published - 2019

Cite this

@conference{64a1197e334c4bfeb05acf74edee5e29,

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",

}

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 -

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

Abstract

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