Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone wit...

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Autores principales: Gauntner, Timothy D., Karumuri, Manasa, Guzman, Miguel A., Starnes, Sara E., Besmer, Sherri, Pinz, Hailey, Braddock, Stephen R., Andreone, Teresa L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981724/
https://www.ncbi.nlm.nih.gov/pubmed/33768880
http://dx.doi.org/10.1002/ccr3.3816
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author Gauntner, Timothy D.
Karumuri, Manasa
Guzman, Miguel A.
Starnes, Sara E.
Besmer, Sherri
Pinz, Hailey
Braddock, Stephen R.
Andreone, Teresa L.
author_facet Gauntner, Timothy D.
Karumuri, Manasa
Guzman, Miguel A.
Starnes, Sara E.
Besmer, Sherri
Pinz, Hailey
Braddock, Stephen R.
Andreone, Teresa L.
author_sort Gauntner, Timothy D.
collection PubMed
description L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone with L1 syndrome and Hirschsprung disease.
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spelling pubmed-79817242021-03-24 Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant Gauntner, Timothy D. Karumuri, Manasa Guzman, Miguel A. Starnes, Sara E. Besmer, Sherri Pinz, Hailey Braddock, Stephen R. Andreone, Teresa L. Clin Case Rep Case Reports L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone with L1 syndrome and Hirschsprung disease. John Wiley and Sons Inc. 2021-02-04 /pmc/articles/PMC7981724/ /pubmed/33768880 http://dx.doi.org/10.1002/ccr3.3816 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Gauntner, Timothy D.
Karumuri, Manasa
Guzman, Miguel A.
Starnes, Sara E.
Besmer, Sherri
Pinz, Hailey
Braddock, Stephen R.
Andreone, Teresa L.
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title_full Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title_fullStr Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title_full_unstemmed Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title_short Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
title_sort hirschsprung disease in an infant with l1 syndrome: report of a new case and a novel l1cam variant
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981724/
https://www.ncbi.nlm.nih.gov/pubmed/33768880
http://dx.doi.org/10.1002/ccr3.3816
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