DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 04 · September 2015 DOI: 10.1055/s-005-30634 Genetic Advances in Intellectual Disability Guest Editor: Donatella Milani, MD

Foreword

125
Milani, Donatella; Ronzoni, Luisa; Esposito, Susanna: Genetic Advances in Intellectual Disability

Review Article

128
Carvill, Gemma L.; Mefford, Heather C.: Next-Generation Sequencing in Intellectual Disability
136
Edmondson, Andrew C.; Kalish, Jennifer M.: Overgrowth Syndromes
144
van Steensel, Maurice A. M.: Neurocutaneous Manifestations of Genetic Mosaicism
154
Pezzani, Lidia; Milani, Donatella; Tadini, Gianluca: Intellectual Disability: When the Hypertrichosis Is a Clue
159
Neira-Fresneda, Juanita; Potocki, Lorraine: Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes
168
Marangi, Giuseppe; Zollino, Marcella: Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge
177
Spena, Silvia; Gervasini, Cristina; Milani, Donatella: Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome