Syndrome of Lipoatrophic Diabetes, Vitamin D Resistant Rickets, and Persistent Müllerian Ducts in a Turkish Boy Born to Consanguineous Parents

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 64, Issue 3, 1996, Pages 506-513

  Van Maldergem, Lionel ^a   Bachy, Alain ^b   Feldman, David ^c   Bouillon, Roger ^d   Maassen, Johannes ^e   Dreyer, Manfred ^f   Rey, Rodolfo ^g   Holm, Cecilia ^h   Gillerot, Yves ^a  

^a INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^b Clinique Notre Dame   (Belgium)

^c STANFORD UNIVERSITY   (United States)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e LEIDEN UNIVERSITY   (Netherlands)

^f Krankenhaus Bethanien   (Germany)

^g ECOLE NORMALE SUPÉRIEURE   (France)

^h LUND UNIVERSITY   (Sweden)

Author keywords

Lipodystrophy; Male pseudohermaphroditism; Persistent M llerian ducts; Rickets; Vitamin D

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CALCITRIOL; CHOLESTEROL; COLECALCIFEROL; INSULIN; INSULIN RECEPTOR; MESSENGER RNA; MUELLERIAN INHIBITING FACTOR; TRIACYLGLYCEROL; TRIACYLGLYCEROL LIPASE; VITAMIN RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIUM BLOOD LEVEL; CASE REPORT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FIBROBLAST; GLUCOSE BLOOD LEVEL; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPOATROPHIC DIABETES MELLITUS; LIPODYSTROPHY; MALE; MALE PSEUDOHERMAPHRODITISM; MUELLERIAN DUCT; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME; TURKEY (REPUBLIC); VITAMIN BLOOD LEVEL; VITAMIN D RESISTANT RICKETS;

ADULT; CELLS, CULTURED; CHOLESTEROL ESTERASE; CONSANGUINITY; CYTOCHROME P-450 ENZYME SYSTEM; DIABETES MELLITUS, LIPOATROPHIC; FEMALE; FIBROBLASTS; GLYCOPROTEINS; GROWTH INHIBITORS; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; INFANT, NEWBORN; INSULIN; INSULIN-LIKE GROWTH FACTOR I; MALE; MULLERIAN DUCTS; PHOSPHORYLATION; PSEUDOHERMAPHRODITISM; RECEPTOR, INSULIN; RECEPTORS, CALCITRIOL; RNA, MESSENGER; STEROID HYDROXYLASES; SYNDROME; TESTICULAR HORMONES; TURKEY;

EID: 0029838859     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960823)64:3<506::AID-AJMG12>3.0.CO;2-P     Document Type: Article

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