Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

Author:

Isidor Bertrand,Pichon Olivier,Redon Richard,Day-Salvatore Debra,Hamel Antoine,Siwicka Karolina A.,Bitner-Glindzicz Maria,Heymann Dominique,Kjellén Lena,Kraus Cornelia,Leroy Jules G.,Mortier Geert R.,Rauch Anita,Verloes Alain,David Albert,Le Caignec Cédric

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

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3. Specific acromesomelia with facial and renal anomalies: A new syndrome;Pfeiffer;Clin. Dysmorphol.,1995

4. Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course;Isidor;Am. J. Med. Genet. A.,2009

5. Leroy, J.G., Claus, L., and Mortier, G.R. (2001). Dysmorphic facies, heart defect, hydronephrosis, bilateral club hand, and club foot due to acromesomelic dysostosis: Second edition of Verloes-David syndrome? Abstracts from the 2000 DW Smith Workshop on malformations and morphogenesis, Proc. Greenwood Genetic Center 20, 149–150.

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