The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

American Journal of Medical Genetics, Part A

Volumn 170, Issue 7, 2016, Pages 1754-1762

  Gripp, Karen W ^a   Baker, Laura ^a   Telegrafi, Aida ^b   Monaghan, Kristin G ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b GENEDX   (United States)

Author keywords

ARID1B; BAF complex; exome analysis; facial dysmorphology analysis; SMARCA2

Indexed keywords

ADOLESCENT; ARID1B GENE; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CONSTIPATION; DEVELOPMENTAL DISORDER; EXOME; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MECP2 GENE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBJECTIVE FACIAL ANALYSIS; OTITIS MEDIA; PHENOTYPE; PRIORITY JOURNAL; SMARC2A GENE; STOMACH EMPTYING; TONIC CLONIC SEIZURE; UBE3A GENE; WEIGHT GAIN; WHOLE EXOME ANALYSIS; ZEB2 GENE; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; FACE; FACIES; FOOT DEFORMITIES, CONGENITAL; GENETICS; HAND DEFORMITIES, CONGENITAL; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MICROGNATHISM; MOLECULAR PATHOLOGY; MUSCULAR ATROPHY; MUTATION; NECK; PATHOPHYSIOLOGY;

ARID1B PROTEIN, HUMAN; BANF1 PROTEIN, HUMAN; DNA BINDING PROTEIN; NUCLEAR PROTEIN; SMARCA1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CRANIOFACIAL ABNORMALITIES; DNA-BINDING PROTEINS; EXOME; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MALE; MICROGNATHISM; MUSCULAR ATROPHY; MUTATION; NECK; NUCLEAR PROTEINS; PATHOLOGY, MOLECULAR; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84973130306     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37672     Document Type: Article

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