Simpson-Golabi-Behmel syndrome types I and II

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney,...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4254265/
https://ncbi.nlm.nih.gov/pubmed/25238977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0138-0
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