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Article

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

BMC medical genomics - 24 May 2024

Huang Xiaoyu, Li Huiping, Yang Shangying, Ma Meijiao, Lian Yuanyuan, Wu Xueli, Qi Xiaolong, Wang Xuhui, Rong Weining, Sheng Xunlun

Abstract excerpt

Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders...

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Identifiers

PMID: 38790056
DOI: 10.1186/s12920-024-01904-9
PMCID: PMC11127418

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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.PMID 38790056Read ↗

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Mutation Screening of ARR3, CACNA1F, P4HA2, TRPM1, COL2A1, COL11A1 and PAX6 in a Chinese Cohort of 37 Patients with Early-Onset High Myopia.Semantic proximity Read ↗

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