(PDF) Malan Syndrome: Sotos-Like Overgrowth With De Novo

Malan Syndrome: Sotos-Like Overgrowth With De Novo NFIX Sequence Variants and Deletions in Six New Patients and a Review of the Literature

European Journal of Human Genetics - United Kingdom

doi 10.1038/ejhg.2014.162

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August 13, 2014

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Springer Science and Business Media LLC

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Malan Syndrome: Sotos-Like Overgrowth With De Novo NFIX Sequence Variants and Deletions in Six New Patients and a Review of the Literature

European Journal of Human Genetics - United Kingdom

doi 10.1038/ejhg.2014.162

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Refining the Primrose Syndrome Phenotype: A Study of Five Patients With ZBTB20 De Novo Variants and a Review of the Literature

Analysis of the NSD1 Promoter Region in Patients With a Sotos Syndrome Phenotype

De Novo Variants in Congenital Diaphragmatic Hernia Identify MYRF as a New Syndrome and Reveal Genetic Overlaps With Other Developmental Disorders

Management of Pregnancy in Patients With Exstrophy-Epispadias Sequence: A Case Series and Literature Review

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

Scleroderma-Like Syndrome in a Woman With Silicone Breast Implants – Case Report and Critical Review of the Literature

Horseshoe Adrenal Gland in Association With Asplenia: Presentation of Six New Cases and Review of the Literature

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

A Case of Seizure-Like Movements and Atypical Electrocardiographic Changes During the Induction of Anesthesia in a Child With Suspected Sotos Syndrome