Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a
very heterogeneous condition and represents the most common cause of severe and …

Objective Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of
hypoglycaemia in children. The molecular basis includes defects in pathways that regulate …

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the
NSD1 gene. In this study, we report a case of Sotos syndrome in a preterm infant. The main …

Background Chromatinopathies are a heterogeneous group of genetic disorders caused by
pathogenic variants in genes coding for chromatin state balance proteins. Remarkably …

Sotos syndrome belongs to the group of diseases characterised by features such as facial
dysmorphism, intellectual disability, hypotonia and overgrowth. Usually, Sotos syndrome is …

目的对NSD1 基因新发错义突变的SOTOS 综合征1 例患儿临床资料进行分析并结合文献进行
复习, 以提高临床医生对本病的认识. 方法对1 例5 月龄SOTOS 综合征男婴的临床资料进行回顾 …

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth
during childhood and intellectual disability. While these criteria apply to children and adults …

Sotos syndrome shows clinical overlap with Weaver syndrome and other overgrowth
syndromes during infancy, and the confirmation of diagnosis depends on the presence of …

Repositorio de la Universidad de Zaragoza – Zaguan http://zaguan.unizar.es Page 1
Trabajo Fin de Grado Hemihipertrofia. Síndrome de Beckwith Wiedemann. A propósito de …

Repositorio de la Universidad de Zaragoza – Zaguan http://zaguan.unizar.es Page 1
Trabajo Fin de Grado Hemihipertrofia. Síndrome de Beckwith Wiedemann. A propósito de …