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TASSANO , Hasa

Last name: TASSANO

First name: Hasa

2019 (v1)

Publication

Metadata-only

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22

Tassano, Hasa Ronchetto, Patrizia Calcagno, Annalisa

The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The '16p12.2 microdeletion' is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical findings. We identified a heterozygous 16p12.2...

Uploaded on: February 6, 2024