Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
Author:
Affiliation:
1. Clinical Genetic Service, Department of Health HKSAR Hong Kong China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62187
Reference24 articles.
1. Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings
2. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
3. Mental retardation with absent fifth fingernail and terminal phalanx;Coffin G. S.;American Journal of Diseases of Children,1970
4. Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
5. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A
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2. DPF2-related Coffin-Siris syndrome type 7 in two generations;European Journal of Medical Genetics;2024-06
3. A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice;Cellular and Molecular Neurobiology;2023-05-23
4. Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases;American Journal of Medical Genetics Part A;2022-11-23
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