Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM(*)603780) and ESCO2 (MIM(*)609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abno...

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Detalles Bibliográficos
Publicado en:Front Pediatr
Autores principales: Colombo, Elisa Adele, Mutlu-Albayrak, Hatice, Shafeghati, Yousef, Balasar, Mine, Piard, Juliette, Gentilini, Davide, Di Blasio, Anna Maria, Gervasini, Cristina, Van Maldergem, Lionel, Larizza, Lidia
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6546804/
https://ncbi.nlm.nih.gov/pubmed/31192177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00210
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