A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Maarten Otter; Marijke Wevers; Marline Pisters; Rolph Pfundt; Yvonne Vos; Rutger Jan Nievelstein; Constance Stumpel

doi:10.1002/ccr3.1038

A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Maarten Otter^*, Marijke Wevers, Marline Pisters, Rolph Pfundt, Yvonne Vos, Rutger Jan Nievelstein, Constance Stumpel

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Key Clinical Message Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.

Original language	English
Pages (from-to)	1213-1217
Number of pages	5
Journal	Clinical Case Reports
Volume	5
Issue number	8
DOIs	https://doi.org/10.1002/ccr3.1038
Publication status	Published - Aug 2017

Keywords

Behavioral phenotype of genetic syndromes
corpus callosum hypogenesis
L1CAM mutation
X-linked mental retardation
CELL-ADHESION MOLECULE
HYDROCEPHALUS
SPECTRUM
DISEASE

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abstract = "Key Clinical Message Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.",

keywords = "Behavioral phenotype of genetic syndromes, corpus callosum hypogenesis, L1CAM mutation, X-linked mental retardation, CELL-ADHESION MOLECULE, HYDROCEPHALUS, SPECTRUM, DISEASE",

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AU - Pfundt, Rolph

AU - Vos, Yvonne

AU - Nievelstein, Rutger Jan

AU - Stumpel, Constance

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KW - corpus callosum hypogenesis

KW - L1CAM mutation

KW - X-linked mental retardation

KW - CELL-ADHESION MOLECULE

KW - HYDROCEPHALUS

KW - SPECTRUM

KW - DISEASE

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A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Abstract

Keywords

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