TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1442-1447

  Campbell, Ian M ^a   Kolodziejska, Katarzyna E ^a   Quach, Michael M ^a,b   Wolf, Varina Louise ^a   Cheung, Sau Wai ^a   Lalani, Seema R ^a   Ramocki, Melissa B ^a,b   Stankiewicz, Pawel ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

Loeys Dietz syndrome; Microcephaly; Somatic mosaicism; TGF signaling

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3P; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HUMAN; HUMAN CELL; INFANT; LOEYS DIETZ SYNDROME; LYMPHOBLAST; MICROCEPHALY; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; TGFBR2 GENE;

COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MICROCEPHALY; MOSAICISM; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 79956205243     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34015     Document Type: Article

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