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A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. C...

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Detalles Bibliográficos
Autores principales: Lee, Seung Kyung, Lee, Min Jeong, Lee, Hyo Jin, Kim, Bu Kyung, Sohn, Young Bae, Chung, Yoon-Sok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Bone and Mineral Research 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3780829/
https://www.ncbi.nlm.nih.gov/pubmed/24524058
http://dx.doi.org/10.11005/jbm.2013.20.1.57