Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 500-504

  Magoulas, Pilar L ^a,d   Liu, Pengfei ^a   Gelowani, Violet ^a   Soler Alfonso, Claudia ^b   Kivuva, Emma C ^c   Lupski, James R ^a,d   Potocki, Lorraine ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Dosage sensitivity; Microduplication syndrome; Potocki Lupski syndrome; PTLS; RAI1

Indexed keywords

ANTIBIOTIC AGENT; ETIRACETAM; OXCARBAZEPINE;

ADULT; ARTICLE; ASTHMA; BALANCE DISORDER; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEEDING DIFFICULTY; FEMALE; GENETIC DISORDER; HUMAN; HYPOSPADIAS; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; LEARNING DISORDER; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSIOTHERAPY; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SEPSIS; SPEECH DELAY; SPEECH THERAPY; SYRINGOMYELIA; TONIC CLONIC SEIZURE; YOUNG ADULT;

DOSAGE SENSITIVITY; MICRODUPLICATION SYNDROME; POTOCKI-LUPSKI SYNDROME; PTLS; RAI1;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE; SMITH-MAGENIS SYNDROME; YOUNG ADULT;

EID: 84892841667     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36287     Document Type: Article

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