Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

American Journal of Medical Genetics, Part A

Volumn 146, Issue 12, 2008, Pages 1587-1592

  McBrien, Jacqueline ^a   Crolla, John Anthony ^b   Huang, Shuwen ^b   Kelleher, Jerry ^a   Gleeson, John ^c   Lynch, Sally Ann ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c SLIGO UNIVERSITY HOSPITAL   (Ireland)

Author keywords

8q24.1 deletion; EXT1; Toe pads; TRPS1

Indexed keywords

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA; CHROMOSOME 8Q; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; KARYOTYPING; MALE; PHENOTYPE; PRIORITY JOURNAL; TOE MALFORMATION; VERTEBRA MALFORMATION;

ADIPOSE TISSUE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; DNA-BINDING PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LANGER-GIEDION SYNDROME; MALE; N-ACETYLGLUCOSAMINYLTRANSFERASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TOES; TRANSCRIPTION FACTORS;

SOLEIDAE;

EID: 44849126466     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32347     Document Type: Article

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