14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

doi:10.1002/ajmg.a.35334

Article

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

American journal of medical genetics. Part A - 1 Jun 2012

Piccione Maria, Serra Gregorio, Consiglio Valeria, Di Fiore Antonella, Cavani Simona, Grasso Marina, Malacarne Michela, Pierluigi Mauro, Viaggi Chiara, Corsello Giovanni

Abstract excerpt

Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual...

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14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

Abstract excerpt

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