Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2024-2026

  Rojnueangnit, Kitiwan ^a   Robin, Nathaniel H ^a,b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

Author keywords

22q11.2 deletion syndrome; Baller Gerold syndrome; Craniosynostosis; FISH for 22q11.2; Hypoplastic thumb; Imperforate anus; Radial ray defect

Indexed keywords

ANOPLASTY; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BALLER GEROLD SYNDROME; BONE MALFORMATION; BRACHYCEPHALY; CASE REPORT; CESAREAN SECTION; CHROMOSOME DELETION 22Q11; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; EXOPHTHALMOS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GESTATIONAL AGE; HUMAN; HYPOCALCEMIA; HYPOPLASIA; INTRAUTERINE GROWTH RETARDATION; MICROCEPHALY; NEWBORN; PRIORITY JOURNAL; RADIAL RAY DEFECT; RECQL4 GENE; THUMB MALFORMATION;

22Q11.2 DELETION SYNDROME; BALLER-GEROLD SYNDROME; CRANIOSYNOSTOSIS; FISH FOR 22Q11.2; HYPOPLASTIC THUMB; IMPERFORATE ANUS; RADIAL RAY DEFECT;

ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOSYNOSTOSES; DIGEORGE SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; RADIUS; YOUNG ADULT;

EID: 84880707464     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36004     Document Type: Article

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