RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous
cellular functions essential for normal development. RAC1 is highly conserved across …

The nuclear factor one (NFI) site‐specific DNA‐binding proteins represent a family of
transcription factors that are important for the development of multiple organ systems …

Microcephaly presents heterogeneous genetic etiology linked to several
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …

Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different
rearrangements at the distal region of the long arm of chromosome 22 (22q13. 3) or …

Purpose To identify genomic imbalances and candidate loci in idiopathic male infertility.
Methods Affymetrix CytoScan 750K Array was used to analyze genomic imbalances and …

(1) Background: 5p minus Syndrome (S5p-) is a neurodevelopmental disorder caused by a
deletion in the short arm of chromosome 5. Among the phenotypic characteristics of S5p …

Macrocephaly frequently occurs in single-gene disorders affecting the PI3K-AKT-MTOR
pathway; however, epigenetic mutations, mosaicism, and copy number variations (CNVs) …

Exploring genes and pathways underlying intellectual disability (ID) provides insight into
brain development and function, clarifying the complex puzzle of how cognition develops. As …

Abstract The proximal 19p13. 3 microdeletion/microduplication (prox19p13. 3del/dup)
syndrome is a recently described disorder with common clinical features including …

Abstract Subtelomeric 19p13. 3 deletions have been associated with diverse anatomical
and developmental phenotypes. A recent study of eight patients with subtelomeric interstitial …