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20q13.2-q13.33 deletion syndrome: A case report

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 feat...

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Détails bibliographiques
Auteurs principaux: Butler, Merlin G., Usrey, Kelly M., Roberts, Jennifer L., Manzardo, Ann M., Schroeder, Stephen R.
Format: Artigo
Langue:Inglês
Publié: Georg Thieme Verlag KG 2013
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203459/
https://ncbi.nlm.nih.gov/pubmed/25339993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13065
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