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Journal of Pediatric Genetics

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https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00029027.xml

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