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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Detalles Bibliográficos
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

Internet

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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