Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

American Journal of Medical Genetics, Part A

Volumn 140, Issue 16, 2006, Pages 1778-1784

  Tan, Tiong Yang ^a,b   Jameson, J Larry ^c   Campbell, Peter Elis ^d   Ekert, Paul G ^a,b   Zacharin, Margaret ^a,b   Savarirayan, Ravi ^a,b,e  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c NORTHWESTERN UNIVERSITY   (United States)

^d MONASH UNIVERSITY   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Adrenal hypoplasia congenita; Adrenal insufficiency; Autosomal recessive; Cytomegalic adrenal cells

Indexed keywords

ADRENAL DISEASE; ADRENAL INSUFFICIENCY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; IMAGE SYNDROME; INFANT; INTRAUTERINE GROWTH RETARDATION; PRIORITY JOURNAL; RARE DISEASE; REVIEW; SIBLING; X CHROMOSOME LINKAGE;

ADRENAL GLANDS; ADRENAL INSUFFICIENCY; FATAL OUTCOME; FEMALE; FINGER PHALANGES; FOLLOW-UP STUDIES; GENES, RECESSIVE; GENES, X-LINKED; HUMANS; INFANT; METACARPAL BONES; RIBS; SIBLINGS; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 33746658040     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31365     Document Type: Review

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