Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669
نویسندگان
چکیده
منابع مشابه
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669
Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1-3. The type VI collage...
متن کاملThe Association of Health System Functions With Down Syndrome Prevalence and Mortality Across World Countries
Objective: Down syndrome or trisomy 21 is one of the most common human chromosomal disorders that affect cognitive functions, communication and behavioral skills. At the macro level, various factors can contribute to the Down syndrome prevalence and mortality. This study aimed to investigate the association of health system functions with Down syndrome prevalence and mortality worldwide. Mater...
متن کاملFunctional performance in children with Down syndrome.
OBJECTIVES The purpose of this study was to describe home and community functional performance in 5-year-old children with Down syndrome. METHOD In a cross-sectional study of 5-year-old children with Down syndrome in Norway (N=43), functional performance was measured with the Norwegian translation of the Pediatric Evaluation of Disability Inventory (PEDI). Additional descriptive information r...
متن کاملAssociation of Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRD) with Down syndrome
Hypoparathyroidism-Retardation-Dysmorphism (HRD) syndrome, also known as Sanjad Sakati Syndrome (SSS), is a rare autosomal recessive genetic condition seen in offspring of consanguineous parents of Middle Eastern origin. HRD consists of hypoparathyroidism leading to hypocalcemia and hyperphosphatemia, growth retardation, and characteristic dysmorphic features. This case presents a Saudi baby gi...
متن کاملSmoking and its association with cryptorchidism in Down syndrome.
INTRODUCTION Cryptorchidism is a common and prevalent condition in patients with Down syndrome. Environmental factors, such as smoking, can be associated with malformations during fetal development. The study of the prevalence of cryptorchidism and its association with parental tobacco use in Down syndrome can contribute to alert health care professionals, patients and family members regarding ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2013
ISSN: 1664-8021
DOI: 10.3389/fgene.2013.00057