Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome-Reference-Cited by-同舟云学术

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

Published:2004 Issue:4 Volume:62 Page:197-207
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

de Boer Lonneke,Kant Sarina G.,Karperien Marcel,van Beers Lotte,Tjon Jennifer,Vink Geraldine R.,van Tol Dewy,Dauwerse Hans,le Cessie Saskia,Beemer Frits A.,van der Burgt Ineke,Hamel Ben C.J.,Hennekam Raoul C.,Kuhnle Ursula,Mathijssen Inge B.,Veenstra-Knol Hermine E.,Schrander Stumpel Connie T.,Breuning Martijn H.,Wit Jan M.

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Cerebral Gigantism in Childhood

2. Sotos syndrome: a study of the diagnostic criteria and natural history.

3. Haploinsufficiency of NSD1 causes Sotos syndrome

4. NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

5. Spectrum of NSD1 mutations in Sotos and Weaver syndromes

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