The Roberts syndrome/SC Phocomelia spectrum - A case report of an adult with review of the literature

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 472-478

  Goh, Elaine Suk Ying ^a   Li, Chumei ^b   Horsburgh, Sheri ^c   Kasai, Yumi ^d   Kolomietz, Elena ^e   Morel, Chantal France ^a,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MCMASTER CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Adult middle aged; Congenital heart defect; ESCO2; Guidelines; Phocomelia; Roberts syndrome; Sc phocomelia

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME PUFF; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE CLASSIFICATION; ESCO2 GENE; GENE; GENE MUTATION; HETEROCHROMATIN; HUMAN; KARYOTYPE; MALE; MOLECULAR GENETICS; NOONAN SYNDROME; PHOCOMELIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; ROBERTS SYNDROME; SISTER CHROMATID;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; ECTROMELIA; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; KARYOTYPING; MALE; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 75449102541     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33261     Document Type: Article

References (13)

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13. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli MLG, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KOJ, Raas-Rothschild A, Hennekam RCM, Jabs EW. 2009. Phenotypic variability in 49 cases with ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet Published online 1 Jul 2009. 10.1136/jmg.2009.068395.