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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:
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
Descripción
Sumario: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 folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.