1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 173, Issue 3, 2017, Pages 766-770

  Tim Aroon, Thipwimol ^a   Jinawath, Natini ^a   Thammachote, Weerin ^a   Sinpitak, Praweena ^b   Limrungsikul, Anchalee ^a   Khongkhatithum, Chaiyos ^a   Wattanasirichaigoon, Duangrurdee ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b DNA Center   (Thailand)

Author keywords

1q21.3; developmental delay; GATAD2B; hypotonia; microdeletion; non homologous end joining; SNP array; TPM3

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DELETION; CLINICAL FEATURE; CLINODACTYLY; DEVELOPMENTAL DISORDER; DNA END JOINING REPAIR; FEEDING DIFFICULTY; FEMALE; GATAD2B GENE; GENE; GENE LOCATION; HAX1 GENE; HUMAN; INFANT; MUSCLE HYPOTONIA; PALPEBRAL FISSURE ANOMALY; REGULATOR GENE; SCANTY HAIR; SINGLE NUCLEOTIDE POLYMORPHISM; TELECANTHUS; TPM3 GENE; CHROMOSOME 1; CHROMOSOME DISORDERS; DEVELOPMENTAL DISABILITIES; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION STUDY; GENETICS; PHENOTYPE; SYNDROME;

GATAD2B PROTEIN, HUMAN; TRANSCRIPTION FACTOR GATA;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; GATA TRANSCRIPTION FACTORS; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; SYNDROME;

EID: 85013216791     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38082     Document Type: Article

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