A carregar...

SAT-055 A De Novo 1p13.2 Deletion Related to Short Stature, Hypothyroidism and Mild Developmental Delay

Background: Chromosomal deletions may lead to variable phenotypic alterations, depending on which loci and genes are deleted. We present the case of a boy with a de novo 1p13.2 deletion which was diagnosed by array-CGH analysis. Clinical Case: A Greek boy, who was referred for evaluation of growth f...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Vlachopapadopoulou, Elpis Athina, Dikaiakou, Eirini, Panagiotopoulos, Ioannis, Papoulidis, Ioannis, Manolakos, Emannouil, Michalacos, Stefanos
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208987/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.731
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!