Clinical features, diagnostic criteria, and management of coffin-siris syndrome

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

Volumn 166, Issue 3, 2014, Pages 252-256

  Vergano, Samantha S ^a,b,c   Deardorff, Matthew A ^d,e  

^a Division of Medical Genetics   (United States)

^b Children's Hospital of the King's Daughters   (United States)

^c EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

BAF pathway; Coffin Siris; Developmental delay; Diagnostic criteria; Fifth digit

Indexed keywords

ARTICLE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CLINICAL FEATURE; COFFIN SIRIS SYNDROME; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DIET THERAPY; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FACIES; FOLLOW UP; GENE MUTATION; GENE THERAPY; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEDICAL LITERATURE; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MULTIPLE MALFORMATION SYNDROME; NAIL HYPOPLASIA; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; PATIENT CARE; PHENOTYPE; SCANTY HAIR; SEIZURE; ABNORMALITIES, MULTIPLE; CONGENITAL MALFORMATION; FACE; HAND DEFORMITIES, CONGENITAL; INTELLECTUAL DISABILITY; MICROGNATHISM; MUTATION; NECK; PRACTICE GUIDELINE;

ABNORMALITIES, MULTIPLE; FACE; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MICROGNATHISM; MUTATION; NECK; PRACTICE GUIDELINES AS TOPIC;

EID: 84908608761     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31411     Document Type: Article

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