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Possible genetic heterogeneity in the Saethre-Chotzen syndrome

✍ Scribed by Hong Wei Ma; Elisabeth Lajeunie; Nathalie de Parseval; Arnold Munnich; Dominique Renier; Martine Le Merrer


Book ID
106136416
Publisher
Springer
Year
1996
Tongue
English
Weight
119 KB
Volume
98
Category
Article
ISSN
0340-6717

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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