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Child's Nervous System

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01-01-2019 | Letter to the Editor

A unique case of CHARGE syndrome with craniosynostosis

Authors: Loizos Siakallis, Ai Peng Tan, Raouf Chorbachi, Kshitij Mankad

Published in: Child's Nervous System | Issue 1/2019

Excerpt

Dear Editor: …

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Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G et al (2005) Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 132:265–272CrossRef

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R et al (2014) CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Am J Med Genet A 164:2557–2566CrossRef

Wilkie AO, Morriss-Kay GM (2001) Genetics of craniofacial development and malformation. Nat Rev Genet 2:458–468CrossRefPubMed

Title: A unique case of CHARGE syndrome with craniosynostosis
Authors: Loizos Siakallis
Ai Peng Tan
Raouf Chorbachi
Kshitij Mankad
Publication date: 01-01-2019
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 1/2019
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-4005-5

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A unique case of CHARGE syndrome with craniosynostosis

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