An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

3q26.33‐3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal...

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Detalles Bibliográficos
Autores principales: Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974439/
https://www.ncbi.nlm.nih.gov/pubmed/27525095
http://dx.doi.org/10.1002/ccr3.632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974439/
https://www.ncbi.nlm.nih.gov/pubmed/27525095
http://dx.doi.org/10.1002/ccr3.632

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