Mandibuloacral dysplasia type A in childhood

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2258-2264

  Garavelli, L ^a   D'Apice, M R ^b   Rivieri, F ^a   Bertoli, M ^c   Wischmeijer, A ^a   Gelmini, C ^a   De Nigris, V ^a   Albertini, E ^a   Rosato, S ^a   Virdis, R ^d   Bacchini, E ^d   Dal Zotto, R ^a   Banchini, G ^a   Iughetti, L ^e   Bernasconi, S ^d   Superti Furga, A ^f   Novelli, G ^b,c,g  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

^d UNIVERSITY OF PARMA   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Acro osteolysis; Bulbous fingertips; LMNA; MADA; Mandibuloacral dysplasia; Mandibuloacral dysplasia type A; Type A lipodystrophy

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE; HUMAN; LIPODYSTROPHY; LMNA GENE; MALE; MANDIBULOACRAL DYSPLASIA; MANDIBULOACRAL DYSPLASIA TYPE A; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; OSTEOLYSIS; PRIORITY JOURNAL; PROGERIA; SKULL RADIOGRAPHY;

AGE OF ONSET; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; LIPODYSTROPHY; MALE; MANDIBULAR DISEASES;

DUDLEYA EDULIS; WORMIA;

EID: 70349509923     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33005     Document Type: Article

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