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

Autor:	Hailey Pinz, Teresa Andreone, Sara E Starnes, Stephen R. Braddock, Miguel A. Guzman, Manasa Karumuri, Timothy D. Gauntner, Sherri Besmer
Rok vydání:	2021
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics L1 lcsh:Medicine Case Report Case Reports Disease 030204 cardiovascular system & hematology digestive system Adducted thumb Congenital hydrocephalus 03 medical and health sciences 0302 clinical medicine Medicine genetics neurosurgery Spasticity L1 syndrome lcsh:R5-920 paediatrics and adolescent medicine business.industry lcsh:R General Medicine L1CAM gene digestive system diseases 030220 oncology & carcinogenesis Neurosurgery medicine.symptom lcsh:Medicine (General) business
Zdroj:	Clinical Case Reports Clinical Case Reports, Vol 9, Iss 3, Pp 1518-1523 (2021)
ISSN:	2050-0904
DOI:	10.1002/ccr3.3816
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91766c95c7557ef950be44c5ea9bc053 https://doi.org/10.1002/ccr3.3816 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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