Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

BACKGROUND: Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and molecular heterogeneity is described in SRS. Common causes are loss of methylation...

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Detalles Bibliográficos
Autores principales: Baba, Naomi, Lengyel, Anna, Pinti, Eva, Yapici, Elzem, Schreyer, Isolde, Liehr, Thomas, Fekete, György, Eggermann, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107271/
https://www.ncbi.nlm.nih.gov/pubmed/35562807
http://dx.doi.org/10.1186/s13039-022-00596-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107271/
https://www.ncbi.nlm.nih.gov/pubmed/35562807
http://dx.doi.org/10.1186/s13039-022-00596-z

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