Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

American Journal of Human Genetics

Volumn 71, Issue 2, 2002, Pages 426-431

  Novelli, Giuseppe ^a   Muchir, Antoine ^b   Sangiuolo, Federica ^a   Helbling Leclerc, Anne ^b   D’apice, Maria Rosaria ^a   Massart, Catherine ^b   Capon, Francesca ^a   Sbraccia, Paolo ^a   Federici, Massimo ^a   Lauro, Renato ^a   Tudisco, Cosimo ^a   Pallotta, Rosanna ^c   Scarano, Gioacchino ^d   Dallapiccola, Bruno ^e,f   Merlini, Luciano ^g   Bonne, Gisèle ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY OF CHIETI   (Italy)

^d University of Benevento   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f CSS Mendel Institute   (United States)

^g RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MALFORMATION SYNDROME; MANDIBULOACRAL DYSPLASIA; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST;

EID: 12244293441     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341908     Document Type: Article

References (28)

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5. A case of cleidocranial dysostosis
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7. Structure of the globular tail of nuclear lamin
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27. Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis
28. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys