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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders [PDF]
Genome MedicineBackground Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly
Jihoon G. Yoon +24 more
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Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]
BMC Medical Genetics, 2017 Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Sarah Duerinckx +6 more
doaj +4 more sources
Genetic diagnosis of fetal microcephaly at a single tertiary center in China
Frontiers in Genetics, 2023 Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly are limited ...
You Wang +18 more
doaj +1 more source
ALEITAMENTO MATERNO DE CRIANÇAS COM MICROCEFALIA NO CONTEXTO DO ZIKA VÍRUS
Cogitare Enfermagem, 2021 Objective: To understand the perceptions of breastfeeding of mothers of children with microcephaly. Method: Descriptive, qualitative study with 12 women conducted at the outpatient clinic of Hospital Regional Materno Infantil de Imperatriz, Maranhão ...
Floriacy Stabnow Santos +6 more
doaj +1 more source
Microcephaly and Associated Risk Factors in Newborns: A Systematic Review and Meta-Analysis Study
Tropical Medicine and Infectious Disease, 2022 Congenital microcephaly is caused by a multitude of drivers affecting maternal–fetal health during pregnancy. It is a rare outcome in high-income industrial countries where microcephaly rates are in the range of 0.3–0.9 per 1000 newborns.
Natália de L. Melo +2 more
doaj +1 more source
International Journal of Infectious Diseases, 2021 Background: Little is known regarding the developmental consequences of congenital Zika syndrome (CZS) without microcephaly at birth. Most previously published clinical series were descriptive and they had small sample sizes. Study design: We conducted a
Tamires Barradas Cavalcante +14 more
doaj +1 more source
Jornal de Pediatria, 2021 Objective: We sought to describe the prevalence of microcephaly and to compare the different cutoff points established by the Brazilian Ministry of Health at various times during a Zika virus epidemic.
Ana Paula Antunes Pascalicchio Bertozzi +11 more
doaj +1 more source
Microcephaly measurement in adults and its association with clinical variables
Revista de Saúde Pública, 2022 OBJECTIVE To establish a microcephaly cut-off size in adults using head circumference as an indirect measure of brain size, as well as to explore factors associated with microcephaly via data mining.
Nicole Rezende da Costa +13 more
doaj +1 more source
Relationship between microcephaly and indicators of social inequality in the state of Paraíba, Brazil [PDF]
Einstein (São Paulo), 2023 Objective To analyze the relationship between microcephaly and social inequality indicators in the state of Paraíba during the biennium January 2015 and December 2016.
Anna Carolina D’ucarmo Bezerra +5 more
doaj +1 more source
Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks
BMC Pregnancy and Childbirth, 2021 Background Prevalence of neonatal microcephaly in populations without Zika-epidemics is sparse. The study aimed to report baseline prevalence of congenital microcephaly and its relationship with prenatal factors in an area at risk of Zika outbreak ...
Songying Shen +12 more
doaj +1 more source