Lymphangiectasia with persistent müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome

American Journal of Medical Genetics

Volumn 104, Issue 1, 2001, Pages 65-68

  Bellini, Carlo ^a,d   Bonioli, Eugenio ^a   Josso, Nathalie ^b   Belville, Corinne ^b   Mazzella, Massimo ^a   Costabel, Simona ^a   Sementa, Angela Rita ^a   Marino, Carla Enrica ^a   Tomà, Paolo ^a   Hennekam, Raoul C M ^c   Serra, Giovanni ^a  

^a G GASLINI INSTITUTE   (Italy)

^b ECOLE NORMALE SUPÉRIEURE   (France)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

Autosomal recessive inheritance; Lymphangiectasia; Lymphedema; Persistent m llerian derivatives; Urioste syndrome

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CRANIOFACIAL MALFORMATION; FEMALE; FETUS; GENITAL MALFORMATION; HUMAN; HUMAN TISSUE; INTESTINE LYMPHANGIECTASIA; KIDNEY MALFORMATION; LYMPHANGIECTASIS; MUELLERIAN DUCT; NEWBORN; PRIORITY JOURNAL; PROTEIN DEPLETION; RESPIRATORY FAILURE; URIOSTE SYNDROME;

ABNORMALITIES, MULTIPLE; AMNIOCENTESIS; CHROMOSOME DISORDERS; FEMALE; GENES, RECESSIVE; HUMANS; KARYOTYPING; LYMPHANGIECTASIS, INTESTINAL; LYMPHEDEMA; MALE; MULLERIAN DUCTS; PROTEIN-LOSING ENTEROPATHIES; SYNDROME;

GENETTA; RAPHIA FRATER;

EID: 0035889369     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1518     Document Type: Article

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