Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Skeletal muscle formation is a multi-step process that is governed by complex networks of
transcription factors. The regulation of their functions is in turn multifaceted, including several …

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We
aim to delineate the entity by studying a large group of affected individuals. We gathered …

Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking
guidelines for diagnosis, management and monitoring of evolutive complications. Less than …

The nuclear factor I (NFI) family of transcription factors play an important role in normal
development of multiple organs. Three NFI family members are highly expressed in the …

Data is an essential part of smart cities, and data can play an important role in veracity;
estimation; decision making processes. Data generated through web applications and …

Secretory carcinoma of the skin is a rare adnexal carcinoma, which is morphologically and
immunohistochemically identical to secretory carcinoma of the breast and is associated with …

Human genetics has validated de-repression of fetal gamma globin (HBG) in adult
erythroblasts as a powerful therapeutic paradigm in diseases involving defective adult beta …

Abstract Changes in DNA methylation in specific coding or non‐coding regions can
influence development and potentially divergence in traits within species and groups. While …