Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
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DOI：
10.1002/ccr3.3816
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发表时间：
2021-03
影响因子：
0.7
通讯作者：
Andreone TL
中科院分区：
文献类型：
--
作者：
Gauntner TD;Karumuri M;Guzman MA;Starnes SE;Besmer S;Pinz H;Braddock SR;Andreone TL
L1综合征是一种X连锁疾病，表现为先天性脑积水、拇指内收和痉挛。L1综合征和先天性巨结肠同时发生的病例很少，L1CAM基因突变被认为是两者的基础。我们提出了一种新的致病性L1CAM变异的人与L1综合征和先天性巨结肠症。L1综合征是一种X连锁疾病，表现为先天性脑积水、拇指内收和痉挛。L1综合征和先天性巨结肠同时发生的病例很少，L1CAM基因突变被认为是两者的基础。我们提出了一种新的致病性L1CAM变异的人与L1综合征和先天性巨结肠症。
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. 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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