The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 140-144

  Raas Rothschild, Annick ^a   Dijkhuizen, Trijnie ^b   Sikkema Raddatz, Birgit ^b   Werner, Marion ^a   Dagan, Judith ^a   Abeliovich, Devorah ^a   Lerer, Israela ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Blepharophimosis; Chromosome 8q22.1; Contractures; Happy disposition; Microdeletion; Nablus mask like facial syndrome; Telecanthus

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CHILD BEHAVIOR; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRYPTORCHISM; FACE MALFORMATION; HUMAN; HYDRAMNIOS; INFANT; MALE; NABLUS MASK LIKE FACIAL SYNDROME; SCHOOL CHILD; SCHWARTZ JAMPEL SYNDROME; SPIGELIAN HERNIA;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; HAPPINESS; HUMANS; MALE; SYNDROME;

EID: 67349150706     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.011     Document Type: Article

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