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A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome

✍ Scribed by Elaine H. Zackai; Catherine A. Stolle


Book ID
117852618
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
57 KB
Volume
63
Category
Article
ISSN
0002-9297

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πŸ“œ SIMILAR VOLUMES


A family with the Saethre-Chotzen syndro
✍ Bianchi, Elena ;Aric??, Maurizio ;Podest??, Alberto F. ;Grana, Marco ;Fiori, Pao πŸ“‚ Article πŸ“… 1985 πŸ› John Wiley and Sons 🌐 English βš– 710 KB

Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type I11 (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild synd