Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Metabolism: Clinical and Experimental

Volumn 64, Issue 11, 2015, Pages 1530-1540

  Reinier, Frederic ^a,b   Zoledziewska, Magdalena ^c   Hanna, David ^b   Smith, Josh D ^b   Valentini, Maria ^a   Zara, Ilenia ^a   Berutti, Riccardo ^a   Sanna, Serena ^c   Oppo, Manuela ^a,d   Cusano, Roberto ^a   Satta, Rosanna ^d   Montesu, Maria Antonietta ^d   Jones, Chris ^a   Cerimele, Decio ^d   Nickerson, Deborah A ^b   Angius, Andrea ^a,c   Cucca, Francesco ^c,d   Cottoni, Francesca ^d   Crisponi, Laura ^c  

^a CENTER FOR ADVANCED STUDIES   (Italy)

^b UNIVERSITY OF WASHINGTON   (United States)

^c Milan Unit   (Italy)

^d UNIVERSITY OF SASSARI   (Italy)

Author keywords

Exome sequencing; Lipodystrophies; MDPL syndrome; POLD1

Indexed keywords

ASPARTATE AMINOTRANSFERASE; CHOLESTEROL; DNA; ESTRADIOL; FOLLITROPIN; GONADOTROPIN; INSULIN; LUTEINIZING HORMONE; PROLACTIN; TRIACYLGLYCEROL;

ADULT; ALLELIC IMBALANCE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONGENITAL GENERALIZED LIPODYSTROPHY; CONJUNCTIVA DISEASE; DIABETIC RETINOPATHY; DNA SEQUENCE; ESTRADIOL BLOOD LEVEL; EYELID DISEASE; FAMILIAL PARTIAL LIPODYSTROPHY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENETIC ANALYSIS; GONADOTROPIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; HYPERPROLACTINEMIA; HYPERTRIGLYCERIDEMIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOTROPHY; INDEL MUTATION; LID TELEANGIECTASIS; LIPODYSTROPHY; LUTEINIZING HORMONE BLOOD LEVEL; MANDIBULAR HYPOPLASIA DEAFNESS PROGEROIDFEATURES AND LIPODYSTROPHY SYNDROME; MANDIBULOACRAL DYSPLASIA ASSOCIATED LIPODYSTROPHY; MARFANOID PROGEROID LIPODYSTROPHY SYNDROME; MUSCLE HYPOTONIA; NEONATAL PROGEROID SYNDROME; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROTEASOME ASSOCIATED AUTOINFLAMMATORY SYNDROME AUTOINFLAMMATORY LIPODYSTROPHY; SCLERODERMA; SECONDARY AMENORRHEA; SHORT STATURE; TELANGIECTASIA; TRIACYLGLYCEROL BLOOD LEVEL; WERNER SYNDROME; WHOLE EXOME SEQUENCING; WIEDEMANN RAUTENSTRAUCH SYNDROME; GENETICS; HEARING IMPAIRMENT; JAW DISEASE; MALE; PATHOPHYSIOLOGY; PEDIGREE; SYNDROME;

ADULT; DEAFNESS; FEMALE; HUMANS; LIPODYSTROPHY; MALE; MANDIBULAR DISEASES; PEDIGREE; SYNDROME;

EID: 84944441174     PISSN: 00260495     EISSN: 15328600     Source Type: Journal    
DOI: 10.1016/j.metabol.2015.07.022     Document Type: Review

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