Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence

Author:

Chacon-Camacho Oscar F.1,Villegas-Ruiz Vanessa1,Buentello-Volante Beatriz1,Piña-Aguilar Raul E.2,Peláez-González Hugo3,Ramírez Magdalena3,González-Rodríguez Johanna1,Zenteno Juan Carlos14

Affiliation:

1. Genetics Department-Research Unit; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico

2. Department of Genetics; Centro Médico Nacional “20 de Noviembre”, ISSSTE,; Mexico City Mexico

3. Radiology Department; Hospital General de Mexico; Mexico City Mexico

4. Biochemistry Department; Faculty of Medicine; National Autonomous University of Mexico (UNAM); Mexico City Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome;Al-Awadi;J Med Genet,1985

2. The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies;Bashyal;Birth Defects Res A Clin Mol Teratol,2012

3. A case of rare congenital malformation: agenesia of the pubic bone;Guilleminot;Rev Chir Orthop Reparatrice Appar Mot,1954

4. Genetic disorders of the skeleton: A developmental approach;Kornak;Am J Hum Genet,2003

5. The skeletal dysplasias;Krakow;Genet Med.,2010

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