Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 468-473

  Gripp, Karen W ^a   Johnson, Caitlyn ^a   Scott Jr , Charles I ^a   Nicholson, Linda ^a   Bober, Michael ^a   Butler, Merlin G ^b   Shaw, Linda ^c   Gorlin, Robert J ^d  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b CHILDREN S MERCY HOSPITAL   (United States)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Cataracts; Hypogammaglobulinemia; Short dental roots; SPONASTRIME dysplasia

Indexed keywords

IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G1;

ANTIBODY RESPONSE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CLINICAL ARTICLE; COXA VARA; DYSPLASIA; EYE EXAMINATION; GENE MUTATION; HUMAN; IMMUNOGLOBULIN DEFICIENCY; KYPHOSIS; METAPHYSIS; OSTEOTOMY; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; SHORT STATURE; SPONASTRIME DYSPLASIA; TOOTH ROOT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AGAMMAGLOBULINEMIA; CATARACT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; TOOTH ROOT;

EID: 38849177525     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32155     Document Type: Article

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