Now showing items 1-10 of 12
Down syndrome in diverse populations
(Wiley Periodicals, Inc., 2017-01)
Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in ...
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap
(Wiley Periodicals, Inc., 2020-03)
Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the ...
Cover Image, Volume 173A, Number 4, April 2017
(Wiley Periodicals, Inc., 2017-04)
The cover image, by Paul Kruszka et al., is based on the Original Article 22q11.2 deletion syndrome in diverse populations, DOI: 10.1002/ajmg.a.38199. Individual images are property of the National Human Genome Research ...
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
(Lippincott Williams and Wilkins Ltd, 2021-01-15)
Background: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan ...
Cover Image, Volume 173A, Number 9, September 2017
(Wiley Periodicals, Inc., 2017-09)
The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
Noonan syndrome in diverse populations
(Wiley Periodicals, Inc., 2017-07-27)
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less ...
Tuberous sclerosis in a patient from Nigeria
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, ...
Rubinstein-Taybi syndrome in diverse populations.
(Wiley Periodicals, Inc., 2020-12)
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, ...
Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017
BACKGROUND: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical ...
Turner syndrome in diverse populations
(Wiley Periodicals, Inc., 2019-12-19)
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical ...