Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 373-376

  Gonzales, Marie ^a   Verloes, Alain ^b   Saint Frison, Marie Hélène ^a   Perrotez, Chantal ^a   Bourdet, Odile ^c   Encha Razavi, Ferechte ^d   Joyé, Nicole ^a   Taillemite, Jean Louis ^a   Walbaum, Roland ^e   Pfeiffer, Rudolf ^f   Maroteaux, Pierre ^d  

^a HÔPITAL SAINT ANTOINE   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Centre Hospitalier de Saint Denis   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CENTRE HOSPITALIER DE ROUBAIX   (France)

^f UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Abnormal ossification; Cystic kidneys; Vertebral anomalies; Vertebral dysostosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAUSE OF DEATH; CLEFT PALATE; CLINICAL FEATURE; DIAPHANOSPONDYLODYSOSTOSIS; DISEASE ASSOCIATION; DYSOSTOSIS; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; MALE; MENINGOMYELOCELE; NEPHROBLASTOMA; NEPHROBLASTOMATOSIS; NEWBORN; OSSIFICATION; PRIORITY JOURNAL; RENOGRAPHY; RESPIRATORY FAILURE; SACRUM; SKELETON RADIOGRAPHY; SPINE RADIOGRAPHY; VERTEBRA BODY;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; KIDNEY NEOPLASMS; MALE; PEDIGREE; SPINAL OSTEOPHYTOSIS; TERMINOLOGY; WILMS TUMOR;

MALIA;

EID: 23044504456     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30537     Document Type: Article

References (6)

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