Salma Ben-Salem Nara Sobreira Nadia A Akawi Aisha M Al-Shamsi Anne John Thachillath Pramathan David Valle Bassam R Ali Lihadh Al-Gazali
10.1002/ajmg.a.37405
Am J Med Genet A
2016 Jan;170A(1):156-61.
arid1b gonadal mosaicism non-mendelian inheritance whole-exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26395437/
Abnormalities, Multiple / genetics DNA-Binding Proteins / genetics Exome / genetics Face / abnormalities Hand Deformities, Congenital / genetics Intellectual Disability / genetics Micrognathism / genetics Mosaicism Mutation / genetics Neck / abnormalities Transcription Factors / genetics
Abnormalities, Multiple / genetics DNA-Binding Proteins / genetics Exome / genetics Face / abnormalities Hand Deformities, Congenital / genetics Intellectual Disability / genetics Micrognathism / genetics Mosaicism Mutation / genetics Neck / abnormalities Transcription Factors / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Abnormalities, Multiple / pathology Adolescent Child Face / pathology Female Hand Deformities, Congenital / pathology Heterozygote Humans Intellectual Disability / pathology Male Micrognathism / pathology Neck / pathology Pedigree Siblings ARID1B protein, human DNA-Binding Proteins Transcription Factors Coffin-Siris syndrome
PMC5448135
26395437
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
2016