Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2959-2962

  Scollon, Sarah ^a   Mcwalter, Kirsty ^a   Abe, Keith ^b   King, Jeremy ^b,c   Kimata, Kevin ^b   Slavin, Thomas P ^b,c  

^a Hawai'i Department of Health   (United States)

^b UNIVERSITY OF HAWAII   (United States)

^c Kapi'olani Medical Specialists   (United States)

Author keywords

Chromosome 19p deletion; Contiguous gene deletion syndrome; Peutz Jeghers syndrome

Indexed keywords

ANTICONVULSIVE AGENT;

ADOLESCENT; ANAMNESIS; ARTICLE; BIFID UVULA; CASE REPORT; CAUSAL ATTRIBUTION; CHROMOSOME 19P; CHROMOSOME DELETION; CLEFT PALATE; COGNITIVE DEFECT; CONGENITAL STRABISMUS; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EVOKED RESPONSE; EYE SURGERY; FACE DYSMORPHIA; FEMALE; FINGER MALFORMATION; GASTROINTESTINAL POLYPOSIS; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HYPERPIGMENTATION; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; JAW MALFORMATION; JOINT LAXITY; LANGUAGE DISABILITY; LENTIGO; LOWER LEG MUSCLE REFLEX; MICROARRAY ANALYSIS; MUSCLE ATROPHY; MUSCLE REFLEX; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PALATE MALFORMATION; PEUTZ JEGHERS SYNDROME; PHENOTYPE; PRIORITY JOURNAL; REFLEX DISORDER; SEIZURE; SENSORY DYSFUNCTION; SHORT TERM MEMORY; STK11 GENE; SURAL NERVE; TOOTH MALFORMATION; VERBAL MEMORY; VISUAL MEMORY;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; HAPLOINSUFFICIENCY; HUMANS; PEUTZ-JEGHERS SYNDROME; PHENOTYPE; POLYPS; PROTEIN-SERINE-THREONINE KINASES; STOMACH;

EID: 84867844555     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35629     Document Type: Article

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