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- W1544844735 abstract "We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33 deletion using microarray analysis. She presented with intellectual disability, absent speech, hypotonia, pre- and post-natal growth retardation and an abnormal face with a unilateral cleft lip. Clinical features and genetic findings with the loss of 30 genes, including GNAS, MC3R, CDH4 and TFAP2C, are described in relationship to the very few cases of 20q13 deletion reported in the literature. Deletion of this region may play an important role in neurodevelopment and function and in causing specific craniofacial features." @default.
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- W1544844735 date "2013-01-01" @default.
- W1544844735 modified "2023-09-23" @default.
- W1544844735 title "20q13.2-q13.33 deletion syndrome: A case report." @default.
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- W1544844735 doi "https://doi.org/10.3233/pge-13065" @default.
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