Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1167-1172

  Amarillo, Ina E ^a   Dipple, Katrina M ^a   Quintero Rivera, Fabiola ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Chromosome microarray analysis; Deletion 17q24.3; Pierre Robin sequence; Position effect; SOX9

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MICRODELETION 17Q24.3; CHROMOSOME POSITIONING; CHROMOSOME REARRANGEMENT; CLEFT PALATE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILY HISTORY; FEMALE; GENE LOCUS; GLOSSOPTOSIS; HETEROZYGOSITY LOSS; HIGHLY CONSERVED NON CODING CIS REGULATORY ELEMENT; HUMAN; MICROARRAY ANALYSIS; NUCLEIC ACID STRUCTURE; PIERRE ROBIN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; SEQUENCE ANALYSIS; SOX 9 GENE; TONGUE DISEASE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FIBROMATOSIS, GINGIVAL; HUMANS; HYPERTRICHOSIS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PIERRE ROBIN SYNDROME; SOX9 TRANSCRIPTION FACTOR;

EID: 84876815438     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35847     Document Type: Article

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