Wordt geladen...

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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Butler, Merlin G., Usrey, Kelly M., Roberts, Jennifer L., Manzardo, Ann M., Schroeder, Stephen R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Georg Thieme Verlag KG 2013
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!