Confirmation of 6q21-6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2109-2113

  Hudson, Cindy ^a   Schwanke, Corbin ^a   Johnson, John P ^a,b   Elias, Abdallah F ^a   Phillips, Sandy ^a   Schwalbe, Tammy ^a   Tunby, Mary ^a   Xu, Dongbin ^a  

^a Shodair Children's Hospital   (United States)

^b TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCARDIOFACIAL SYNDROME; BRACHYCEPHALY; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ECTRODACTYLY; FEEDING DIFFICULTY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC DISORDER; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTELORISM; INFANT; LETTER; MICROARRAY ANALYSIS; MICROGNATHIA; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PRIORITY JOURNAL; SEIZURE; SMALL FOR DATE INFANT; STRABISMUS; SYNDROME DELINEATION; CHROMOSOME 6; CHROMOSOME MAP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; FACIES; FINGER; GENETIC ASSOCIATION; GENETICS; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; PHENOTYPE; SYNDROME; UROGENITAL ABNORMALITIES;

CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; FINGERS; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 84904414221     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36548     Document Type: Letter

References (14)

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