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Article

Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.

Congenital anomalies - 1 Nov 2020

Fujita Takako, Ihara Yukiko, Hayashi Hitomi, Ishii Atsushi, Ideguchi Hiroshi, Inoue Takahito, Imaizumi Taichi, Yamamoto Toshiyuki, Hirose Shinichi

Abstract excerpt

Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent...

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PMID: 32618029
DOI: 10.1111/cga.12383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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