Slide 1By Jared Lauterbach and Josh Dardick Slide 2 Neurofibromatosis (NF) is a disease in which tumors can form on practically any part of the body. Also called elephant…

1. -mink- 2. types of deformity  (1) anterolateral bowing  associated with the limb-threatening condition pseudarthrosis, or dysplasia, of the tibia, although a benign…

Slide 1 By Dr Abiodun Mark Akanmode Slide 2 Slide 3 Table of Content. INTRODUCTION TO GENETICS. TURNER SYNDROME. KLINFELTER SYNDROME. FAMILIAL HYPER CHOLESTEROLEMIA. ALKAPTOURIA.…

Slide 1 1 GINA for Health Professionals The Genetic Information Nondiscrimination Act May 2010 Developed Under a Grant from The Pew Charitable Trusts Copyright 2010 by Genetic…

Slide 1 Von Recklinghausen Neurofibromatosis NF1 By: Jessica Mollman Slide 2 o Anyone o Gender and race do not matter o Boys and girls are equally likely to have it o Equally…

Slide 1 Type-1 NF1 constitutional microdeletions (1/2) MLPA qPCR Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the…

Slide 1 INTRAMEDULLARY SPINAL CORD LESIONS IN NF1 AND NF2 Sheila Kori Slide 2 NF1  Most common neurocutaneous disorder, autosomal dominant  Pathophysiology: Mutation…

Slide 1 Chap. 6 Genes, Genomics, and Chromosomes (Part B) Topics Genomics: Genome-wide Analysis of Gene Structure and Expression Structural Organization of Eukaryotic Chromosomes…

neurofibromatosis Jordan burton What is it?  is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities. Type 1 (NF1) causes skin…

INTRAMEDULLARY SPINAL CORD LESIONS IN NF1 AND NF2 Sheila Kori NF1 Most common neurocutaneous disorder, autosomal dominant Pathophysiology: Mutation in or deletion of the…