Whole-exome sequencing in the clinic: Lessons from six consecutive cases from the clinician's perspective

Molecular Syndromology

Volumn 6, Issue 1, 2015, Pages 23-31

  Volk, Amber ^a   Conboy, Erin ^a   Wical, Beverly ^b   Patterson, Marc ^a   Kirmani, Salman ^a  

^a MAYO CLINIC   (United States)

^b CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

Author keywords

Diagnostic odyssey; Schinzel Giedion syndrome; Whole exome sequencing

Indexed keywords

ALPHA 1 ANTITRYPSIN; EARLY GROWTH RESPONSE FACTOR 2; KIF1A PROTEIN; METFORMIN; MOLECULAR MOTOR; RETINOBLASTOMA BINDING PROTEIN 1; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ABDOMINAL PAIN; ALPHA 1 ANTITRYPSIN DEFICIENCY; APPETITE; ARTHROGRYPOSIS; AUTOSOMAL DOMINANT INHERITANCE; BREECH PRESENTATION; CEREBELLUM ATROPHY; CESAREAN SECTION; CHILD; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL GENETICS; CONGENITAL HEART MALFORMATION; CONGENITAL HYPOMYELINATING NEUROPATHY; COUNSELING; DEVELOPMENTAL DISORDER; ELECTROMYOGRAPHY; ENOPHTHALMOS; EXOME; FACE DYSMORPHIA; FAILURE TO THRIVE; FAMILY HISTORY; FEEDING DIFFICULTY; FEMALE; FETUS DISTRESS; GAIT DISORDER; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEPATOSPLENOMEGALY; HETEROZYGOTE; HOSPITAL DISCHARGE; HUMAN; HYPOPLASIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; JOINT LAXITY; KARYOTYPE; KLINEFELTER SYNDROME; MALAR HYPOPLASIA; MALE; MICROCEPHALY; MIDFACE HYPOPLASIA; MUSCLE HYPOTONIA; MUSCULOSKELETAL PAIN; NEUROPATHY; NEWBORN JAUNDICE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPITZ SYNDROME; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RETINA DYSTROPHY; RETINOBLASTOMA; RETROSPECTIVE STUDY; REVIEW; SEPTUM PELLUCIDUM; SEVERE AXONAL NEUROPATHY; SHORT STATURE; SYLVIAN FISSURE; TONIC SEIZURE; URETER STENT; WHOLE EXOME SEQUENCING;

EID: 84924692296     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000371598     Document Type: Review

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