Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 3, 2014, Pages 241-251

  Kosho, Tomoki ^a,b   Miyake, Noriko ^c   Carey, John C ^d  

^a SHINSHU UNIVERSITY HOSPITAL   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADNP GENE; ARID1A GENE; ARID1B GENE; ARTICLE; AUTISM; BAF COMPLEX GENE; CANCER SUSCEPTIBILITY; COFFIN SIRIS SYNDROME; DOORS SYNDROME; EXOME; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HUMAN; MULTIPLE MALFORMATION SYNDROME; MUTATOR GENE; NICOLAIDES BARAITSER SYNDROME; PHF6 GENE; RARE DISEASE; SMARCA2 GENE; SMARCA4 GENE; SMARCB1 GENE; SMARCE1 GENE; SOMATIC MUTATION; SOX11 GENE; TBC1D24 GENE; ABNORMALITIES, MULTIPLE; CONGENITAL MALFORMATION; FACE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HAND DEFORMITIES, CONGENITAL; INTELLECTUAL DISABILITY; MICROGNATHISM; NECK; NEOPLASM;

ARID1A PROTEIN, HUMAN; ARID1B PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA HELICASE; NONHISTONE PROTEIN; NUCLEAR PROTEIN; SMARCA2 PROTEIN, HUMAN; SMARCA4 PROTEIN, HUMAN; SMARCB1 PROTEIN, HUMAN; SMARCE1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA HELICASES; DNA-BINDING PROTEINS; FACE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MICROGNATHISM; NECK; NEOPLASMS; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS;

EID: 84908614462     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31415     Document Type: Article

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