An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

Valeria Paganelli, Mara GIORDANO, Cristina Meazza, Lucia Schena, Mauro Bozzola

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay.
Lingua originaleInglese
pagine (da-a)2050313X17693967
RivistaSAGE Open Medical Case Reports
Volume5
DOI
Stato di pubblicazionePubblicato - 1 gen 2017

Keywords

  • 2p11.2 deletion
  • facial dysmorphisms
  • short stature
  • speech delay

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