Craniosynostosis in a patient with a de novo 15q15-q22 deletion

American Journal of Medical Genetics, Part A

Volumn 146, Issue 11, 2008, Pages 1462-1465

  Hiraki, Yoko ^a   Moriuchi, Miyuki ^b   Okamoto, Nobuhiko ^c   Ishikawa, Nobutsune ^d   Sugimoto, Yosuke ^d   Eguchi, Kuniki ^d   Sakai, Haruya ^e   Saitsu, Hirotomo ^e   Mizuguchi, Takeshi ^e,f   Harada, Naoki ^b,f   Matsumoto, Naomichi ^e,f  

^a Hiroshima Municipal Center for Child Health and Development   (Japan)

^b Kyushu Medical Science   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

15q interstitial deletion; Craniosynostosis; FBN1 deletion

Indexed keywords

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHROMOSOME 15; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EYE EXAMINATION; FBN1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CRANIOSYNOSTOSES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MICROFILAMENT PROTEINS;

EID: 44449132707     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32339     Document Type: Article

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