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Child's Nervous System

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01-01-2018 | Letter to the Editor

A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation

Authors: Ai Peng Tan, Kshitij Mankad

Published in: Child's Nervous System | Issue 1/2018

Excerpt

Dear Editor, …

Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E et al (2017) Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A 173:1473–1488. https://doi.org/10.1002/ajmg.a.38245 CrossRefPubMed

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Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG et al (1996) Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Am J Med Genet 63:314–317. https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>30.CO;2-N CrossRefPubMed

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Title: A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation
Authors: Ai Peng Tan
Kshitij Mankad
Publication date: 01-01-2018
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 1/2018
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-017-3646-0

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A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation

Excerpt

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