A severely affected female infant with X-linked dominant chondrodysplasia punctata: A case report and a brief review of the literature

Pediatric and Developmental Pathology

Volumn 10, Issue 2, 2007, Pages 142-148

  Rakheja, Dinesh ^a,b   Read, Charles P ^a   Hull, David ^a   Boriack, Richard L ^b   Timmons, Charles F ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b CHILDREN S MEDICAL CENTER   (United States)

Author keywords

7 isomerase; 3 hydroxysteroid 8; Conradi Hunermann Happle syndrome; Emopamil binding protein; X linked dominant chondrodysplasia punctata

Indexed keywords

CHOLEST 8(9) ENE 3BETA OL; STEROL DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; FEMALE; HUMAN; MEDICAL LITERATURE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; SEROLOGY; X CHROMOSOME LINKED DISORDER;

CHONDRODYSPLASIA PUNCTATA; FATAL OUTCOME; FEMALE; GENES, DOMINANT; GENES, X-LINKED; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MODELS, BIOLOGICAL; MUTATION, MISSENSE; PREGNANCY; SEVERITY OF ILLNESS INDEX; STEROID ISOMERASES;

EID: 34147216051     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/06-06-0111.1     Document Type: Article

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