Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Blue sclera is attributed to a diversity of mechanisms, mostly arising in genetic syndromes
and, to a lesser extent, in nongenetic disorders and may occur as a side effect of medication …

Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder
characterized by global developmental delay, intellectual disability (ID), autism spectrum …

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by
chromosomal rearrangements affecting the 22q13. 3 region or by SHANK3 pathogenic …

This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft
(OFC) and 22q11. 2 Deletions Syndrome (22q11. 2 DS) based on research conducted by …

Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor
retardation, prenatal and postnatal growth deficiency, cleft palate, and facial dysmorphism …

Addressing the unmet health needs of persons living with congenital anomalies in low-and
middle-income countries (LMIC) is a major challenge. Registries and databases are …

Abstract 16p13. 3 duplication is a very rare chromosome alteration that is considered a
contiguous gene syndrome, in which CREBBP is the critical gene responsible for the main …

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies,
usually resistant to drug treatment and associated with delayed neuropsychomotor and …