Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromoso...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Novelli, Giuseppe, Muchir, Antoine, Sangiuolo, Federica, Helbling-Leclerc, Anne, D’Apice, Maria Rosaria, Massart, Catherine, Capon, Francesca, Sbraccia, Paolo, Federici, Massimo, Lauro, Renato, Tudisco, Cosimo, Pallotta, Rosanna, Scarano, Gioacchino, Dallapiccola, Bruno, Merlini, Luciano, Bonne, Gisèle
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2002
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC379176/
https://ncbi.nlm.nih.gov/pubmed/12075506
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge