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Article

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

American journal of medical genetics. Part A - 1 Dec 2016

Takenouchi Toshiki, Yoshihashi Hiroshi, Sakaguchi Yuri, Uehara Tomoko, Honda Masataka, Takahashi Takao, Kosaki Kenjiro, Miyama Sahoko

Abstract excerpt

Mutations in the BAF complex (mammalian SWI/SNF complex) are responsible for Coffin-Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia/aplasia of the fifth finger/fingernails. Hirschsprung disease is characterized by defective stem cells in the enteric neural system, and the involvement of multiple signaling cascades has been implicated. So far,...

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PMID: 27511161
DOI: 10.1002/ajmg.a.37861

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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