BHY Chung, J Stavropoulos… - American Journal of …, 2011 - Wiley Online Library We report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1–23.3 identified by array-CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with ... Cited by 1 - Related articles - All 4 versions
CJ Poulton, R Schot, SK Kia, M Jones… - The American Journal of …, 2011 - Elsevier We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed ...
TL Megraw, JT Sharkey… - Trends in cell biology, 2011 - ncbi.nlm.nih.gov Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient neuron production in the developing cerebral cortex. Although MCPH is a rare disease, the questions surrounding its etiology strike at the core of stem cell biology. The ...
M Nimmakayalu, H Major, V Sheffield… - American Journal of …, 2011 - Wiley Online Library Manjunath Nimmakayalu, 1 Heather Major, 1 Val Sheffield, 1 Donald H. Solomon, 2 Richard J. Smith, 2 ... Shivanand R. Patil, 1 and Oleg A. Shchelochkov 1 * ... 1Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, ... Related articles - All 4 versions
[HTML] from nih.govM He, LE Kratz, JJ Michel, AN Vallejo… - The Journal of clinical …, 2011 - ncbi.nlm.nih.gov Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4- ... Cited by 1 - Related articles - All 5 versions
沪公网安备号：31010402006960 （网站）31010405000484 （蝌蝌APP）
安全保密
